H2Y (p.His2Tyr) variant of OCA2 (P protein)
H2Y (p.His2Tyr) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H2Y (p.His2Tyr) variant details
- p.His2Tyr
- ExAC rs781021505
- gnomAD rs781021505
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.53
- MetaSVM -0.63
- CADD 16.93
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available