P99A (p.Pro99Ala) variant of OCA2 (P protein)
P99A (p.Pro99Ala) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P99A (p.Pro99Ala) variant details
- p.Pro99Ala
- ExAC rs757072925
- gnomAD rs757072925
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.95
- MetaSVM 1.12
- CADD 25.30
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available