P39R (p.Pro39Arg) variant of OCA2 (P protein)
P39R (p.Pro39Arg) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
P39R (p.Pro39Arg) variant details
- p.Pro39Arg
- TOPMed rs2044635177
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.43
- MetaSVM -0.55
- CADD 0.31
- Structural context available