R40W (p.Arg40Trp) variant of OCA2 (P protein)
R40W (p.Arg40Trp) in OCA2 (P protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R40W (p.Arg40Trp) variant details
- p.Arg40Trp
- rs757923752
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62345
- ExAC rs757923752
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.58
- MetaSVM -0.19
- CADD 17.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available