P63A (p.Pro63Ala) variant of OCA2 (P protein)
P63A (p.Pro63Ala) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P63A (p.Pro63Ala) variant details
- p.Pro63Ala
- ExAC rs754549783
- TOPMed rs754549783
- gnomAD rs754549783
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.68
- MetaSVM -0.27
- CADD 0.59
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available