P82R (p.Pro82Arg) variant of OCA2 (P protein)
P82R (p.Pro82Arg) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
P82R (p.Pro82Arg) variant details
- p.Pro82Arg
- rs1001541163
- ClinGen CA391363193
- ClinVar RCV003032385
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.71
- MetaSVM -0.04
- CADD 10.67
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available