E671V (p.Glu671Val) variant of OCA2 (P protein)
E671V (p.Glu671Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
E671V (p.Glu671Val) variant details
- p.Glu671Val
- rs797045838
- ClinGen CA277382
- ClinVar RCV000194788
- gnomAD rs797045838
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.66
- MetaSVM 0.42
- CADD 28.50
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)