P12A (p.Pro12Ala) variant of OCA2 (P protein)
P12A (p.Pro12Ala) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- ExAC rs759852184
- gnomAD rs759852184
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.45
- MetaSVM -0.64
- CADD 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available