D91Y (p.Asp91Tyr) variant of OCA2 (P protein)
D91Y (p.Asp91Tyr) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D91Y (p.Asp91Tyr) variant details
- p.Asp91Tyr
- cosmic curated COSV10968
- ExAC rs560935571
- TOPMed rs560935571
- gnomAD rs560935571
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.84
- MetaSVM 0.37
- CADD 23.70
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available