R143H (p.Arg143His) variant of MCM3 (P25205)
R143H (p.Arg143His) in MCM3 (P25205) 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 0.75 / 1. The record also includes population frequency data.
R143H (p.Arg143His) variant details
- p.Arg143His
- rs765811660
- NCI-TCGA Cosmic COSV5771
- cosmic curated COSV57717
- ExAC rs765811660
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 25.20
- PolyPhen-2 0.08
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)