F22L (p.Phe22Leu) variant of MSH2 (DNA mismatch repair protein Msh2)
F22L (p.Phe22Leu) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
F22L (p.Phe22Leu) variant details
- p.Phe22Leu
- rs200632093
- ClinGen CA021716
- cosmic curated COSV51876
- ClinVar RCV000132460
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.79
- MetaSVM 0.75
- CADD 32.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- 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)