P52R (p.Pro52Arg) variant of OCA2 (P protein)
P52R (p.Pro52Arg) 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 0.30 / 1. The record also includes population frequency data and structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- rs200885801
- ClinGen CA7439566
- ClinVar RCV002034936
- 1000Genomes rs200885801
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.51
- MetaSVM -0.50
- CADD 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available