R32W (p.Arg32Trp) variant of CHM (P24386)
R32W (p.Arg32Trp) in CHM (P24386) is a missense change. Clinical records from ClinVar 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 0.63 / 1. The record also includes population frequency data and structural context.
R32W (p.Arg32Trp) variant details
- p.Arg32Trp
- rs1169868760
- NCI-TCGA Cosmic COSV6256
- cosmic curated COSV62566
- TOPMed rs1169868760
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.63
- MetaLR 0.57
- MetaSVM 0.15
- CADD 25.70
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available