F19S (p.Phe19Ser) variant of MSH2 (DNA mismatch repair protein Msh2)
F19S (p.Phe19Ser) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
F19S (p.Phe19Ser) variant details
- p.Phe19Ser
- rs1320061495
- ClinGen CA346728591
- cosmic curated COSV51884
- ClinVar RCV000805682
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)