H697Y (p.His697Tyr) variant of OCA2 (P protein)
H697Y (p.His697Tyr) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
H697Y (p.His697Tyr) variant details
- p.His697Tyr
- rs771063630
- ClinGen CA7438756
- ClinVar RCV003128363
- ExAC rs771063630
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.37
- MetaSVM -0.31
- CADD 24.00
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)