P82A (p.Pro82Ala) variant of OCA2 (P protein)
P82A (p.Pro82Ala) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P82A (p.Pro82Ala) variant details
- p.Pro82Ala
- TOPMed rs1406242149
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.51
- MetaSVM -0.57
- CADD 3.58
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available