A787V (p.Ala787Val) variant of OCA2 (P protein)
A787V (p.Ala787Val) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A787V (p.Ala787Val) variant details
- p.Ala787Val
- rs200457227
- ClinGen CA7438597
- NCI-TCGA Cosmic COSV6233
- cosmic curated COSV62337
- Pathogenic/Likely pathogenic
- OCA2-related disorder; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EY
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.81
- MetaSVM 0.87
- CADD 26.20
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; Tyrosinase-positive oculocutaneous albini)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205.… (PMID 10671067)
- Cited in: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (PMID 10094567)