P39A (p.Pro39Ala) variant of OCA2 (P protein)
P39A (p.Pro39Ala) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- gnomAD rs2044635287
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.49
- MetaSVM -0.54
- CADD 1.31
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available