G393V (p.Gly393Val) variant of OCA2 (P protein)
G393V (p.Gly393Val) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of OCA2-related disorder; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EY. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G393V (p.Gly393Val) variant details
- p.Gly393Val
- rs749661379
- ClinGen CA7439181
- ClinVar RCV001884356
- ClinVar RCV004017879
- Pathogenic/Likely pathogenic
- OCA2-related disorder; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EY
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.92
- MetaSVM 1.06
- CADD 29.90
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; Tyrosinase-positive oculocutaneous albini)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)