P27A (p.Pro27Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
P27A (p.Pro27Ala) 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 Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
P27A (p.Pro27Ala) variant details
- p.Pro27Ala
- rs878853826
- ClinGen CA346728680
- ClinVar RCV000820927
- ClinVar RCV004944221
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.64
- MetaSVM 0.26
- PolyPhen-2 0.11
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Likely benign
- UniProt: Likely benign
- 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)