Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PM2_Supporting
The NM_001040458.3(ERAP1):c.1583A>T(p.Lys528Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K528R) has been classified as Benign.
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Verdict is Uncertain_significance. Variant got 1 ACMG points.
GnomAD3 genomesCov.: 32
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at