Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PM2_SupportingBP4
The NM_001082(CYP4F2):c.1297G>T(p.Val433Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. 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. V433M) has been classified as Likely benign.
Verdict is Uncertain_significance.
GnomAD3 genomesCov.: 31
ClinVarNot reported in
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No publications associated with this variant yet.