R36H (p.Arg36His) variant of OCA2 (P protein)
R36H (p.Arg36His) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R36H (p.Arg36His) variant details
- p.Arg36His
- rs143429491
- ClinGen CA7439577
- cosmic curated COSV62359
- ClinVar RCV002189060
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.44
- MetaSVM -0.47
- CADD 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BASQUE population (allele frequency 0.045)
- Structural context available