MFSD6L

protein-coding

major facilitator superfamily domain containing 6 like

Gene summary

Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_152599.4

Inheritance

ClinVar variants

U:89B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr17:8,797,110-8,799,365

External References & Databases

Ensembl (ENSG00000185156)

Transcript & Mutation Effects

hg38 • Region Span ~2.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

cataractLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0005129

Submitter: G2P

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MFSD6L variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 94

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152599.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					2 clinvar	2
missense			89 clinvar	6 clinvar	1 clinvar	96
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	89	6	3	98

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152599.4	RefSeq	NP_689812.3	1	MANE Select
ENST00000329805.6	Ensembl	ENSP00000330051.4	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000329805
Coding exons: 1
Length: 2232
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.217	351	340	1.03	0.0000190	3737
Missense (PolyPhen)		83	87.14	0.95249		1086
Synonymous	0.472	151	159	0.952	0.00000967	1307
Loss of Function	0.892	14	18.1	0.774	0.00000121	162

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.203
RVIS EVS: 2.65
RVIS percentile EVS: 98.83

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0697

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	Medium	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High