C93Y (p.Cys93Tyr) variant of OCA2 (P protein)
C93Y (p.Cys93Tyr) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
C93Y (p.Cys93Tyr) variant details
- p.Cys93Tyr
- ExAC rs750120991
- gnomAD rs750120991
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.58
- MetaSVM -0.54
- CADD 8.43
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available