R143W (p.Arg143Trp) variant of MCM6 (Q14566)
R143W (p.Arg143Trp) in MCM6 (Q14566) 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 0.51 / 1. The record also includes population frequency data and structural context.
R143W (p.Arg143Trp) variant details
- p.Arg143Trp
- rs750353136
- NCI-TCGA Cosmic COSV5146
- ExAC rs750353136
- TOPMed rs750353136
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.47
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available