Q10P (p.Gln10Pro) variant of MSH2 (DNA mismatch repair protein Msh2)
Q10P (p.Gln10Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
Q10P (p.Gln10Pro) variant details
- p.Gln10Pro
- rs1573422771
- ClinGen CA346728481
- ClinVar RCV001017894
- Ensembl rs1573422771
- Conflicting interpretations
- not provided; Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.39
- MetaSVM -0.34
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)