R138H (p.Arg138His) variant of MCM3 (P25205)
R138H (p.Arg138His) 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 0.65 / 1. The record also includes population frequency data.
R138H (p.Arg138His) variant details
- p.Arg138His
- rs752149151
- NCI-TCGA Cosmic COSV5771
- ExAC rs752149151
- TOPMed rs752149151
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 24.80
- PolyPhen-2 0.27
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)