P52H (p.Pro52His) variant of OCA2 (P protein)
P52H (p.Pro52His) 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 0.24 / 1. The record also includes population frequency data and structural context.
P52H (p.Pro52His) variant details
- p.Pro52His
- 1000Genomes rs200885801
- ExAC rs200885801
- TOPMed rs200885801
- gnomAD rs200885801
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.47
- MetaSVM -0.51
- CADD 2.97
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available