R36L (p.Arg36Leu) variant of OCA2 (P protein)
R36L (p.Arg36Leu) 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 0.21 / 1. The record also includes population frequency data and structural context.
R36L (p.Arg36Leu) variant details
- p.Arg36Leu
- rs143429491
- ClinGen CA7439578
- ClinVar RCV002010726
- ESP rs143429491
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.50
- MetaSVM -0.42
- CADD 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available