G57A (p.Gly57Ala) variant of OCA2 (P protein)
G57A (p.Gly57Ala) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tyrosinase-positive oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G57A (p.Gly57Ala) variant details
- p.Gly57Ala
- ExAC rs746247850
- TOPMed rs746247850
- gnomAD rs746247850
- Uncertain significance
- Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.72
- MetaSVM 0.01
- CADD 3.32
- ClinVar: Uncertain significance (Tyrosinase-positive oculocutaneous albinism)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available