F22I (p.Phe22Ile) variant of MSH2 (DNA mismatch repair protein Msh2)
F22I (p.Phe22Ile) 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; Lynch syndrome; Hereditary nonpolyposis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
F22I (p.Phe22Ile) variant details
- p.Phe22Ile
- rs1189127007
- ClinGen CA346728621
- ClinVar RCV000708824
- ClinVar RCV001052926
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Lynch syndrome; Hereditary nonpolyposis
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.79
- MetaSVM 0.73
- CADD 25.90
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Lynch syndrome; Heredit)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SAN population (allele frequency 1)
- 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)