A776D (p.Ala776Asp) variant of OCA2 (P protein)
A776D (p.Ala776Asp) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
A776D (p.Ala776Asp) variant details
- p.Ala776Asp
- rs769370108
- ClinGen CA391359887
- ClinVar RCV003463222
- Likely pathogenic
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.58
- MetaSVM 0.22
- CADD 26.40
- ClinVar: Likely pathogenic (SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available