P82H (p.Pro82His) variant of OCA2 (P protein)
P82H (p.Pro82His) 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 0.35 / 1. The record also includes structural context.
P82H (p.Pro82His) variant details
- p.Pro82His
- Ensembl rs1001541163
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.71
- MetaSVM -0.04
- CADD 10.67
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available