P47A (p.Pro47Ala) variant of OCA2 (P protein)
P47A (p.Pro47Ala) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P47A (p.Pro47Ala) variant details
- p.Pro47Ala
- gnomAD rs2044633191
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.55
- MetaSVM -0.50
- CADD 0.15
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available