A658V (p.Ala658Val) variant of OCA2 (P protein)
A658V (p.Ala658Val) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
A658V (p.Ala658Val) variant details
- p.Ala658Val
- rs749249918
- ClinGen CA267867207
- ClinVar RCV000851379
- ClinVar RCV006275876
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.79
- MetaSVM 0.71
- CADD 27.70
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGME)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)