R3P (p.Arg3Pro) variant of MSH3 (DNA mismatch repair protein Msh3)
R3P (p.Arg3Pro) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, 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 0.49 / 1. The record also includes population frequency data and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- rs1391784097
- ClinGen CA360264756
- ClinVar RCV002019982
- TOPMed rs1391784097
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.43
- CADD 29.30
- PolyPhen-2 0.88
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available