P27S (p.Pro27Ser) variant of MSH2 (DNA mismatch repair protein Msh2)
P27S (p.Pro27Ser) 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 specified; MSH2-related disorder; Hereditary nonpolyposis colorectal neoplas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- rs878853826
- ClinGen CA346728682
- cosmic curated COSV51875
- ClinVar RCV001027033
- Conflicting interpretations
- not specified; MSH2-related disorder; Hereditary nonpolyposis colorectal neoplas
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.64
- MetaSVM 0.26
- CADD 22.80
- ClinVar: Conflicting classifications of pathogenicity (not specified; MSH2-related disorder; Hereditary nonpolyposis co)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.02)
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)