Q4P (p.Gln4Pro) variant of MSH2 (DNA mismatch repair protein Msh2)
Q4P (p.Gln4Pro) 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 cancer-predisposing syndrome; Hereditary nonpolyposis c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
Q4P (p.Gln4Pro) variant details
- p.Gln4Pro
- rs1553348689
- ClinGen CA658655649
- ClinVar RCV000570258
- ClinVar RCV001858305
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis c
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- ESM-1b 1.00
- AlphaMissense 0.21
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Hereditar)
- EBI: Benign
- UniProt: 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)