V314G (p.Val314Gly) variant of OCA2 (P protein)
V314G (p.Val314Gly) 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; not provided; Tyrosinase-positive oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V314G (p.Val314Gly) variant details
- p.Val314Gly
- rs762262964
- ClinGen CA7439288
- ClinVar RCV001547300
- ClinVar RCV005005257
- Pathogenic/Likely pathogenic
- OCA2-related disorder; not provided; Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.84
- MetaSVM 0.60
- CADD 24.70
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; not provided; Tyrosinase-positive oculocu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)