R101C (p.Arg101Cys) variant of MCM6 (Q14566)
R101C (p.Arg101Cys) 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 0.37 / 1. The record also includes population frequency data and structural context.
R101C (p.Arg101Cys) variant details
- p.Arg101Cys
- rs767037709
- NCI-TCGA Cosmic COSV5146
- ExAC rs767037709
- TOPMed rs767037709
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.20
- CADD 25.10
- PolyPhen-2 0.46
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available