P27R (p.Pro27Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
P27R (p.Pro27Arg) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- rs750746034
- ClinGen CA040707
- ClinVar RCV000688502
- ClinVar RCV001771940
- Conflicting interpretations
- not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.85
- MetaSVM 0.89
- CADD 24.90
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary nonpolyposis colorectal neoplasms; Here)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)