F10L (p.Phe10Leu) variant of MSH6 (DNA mismatch repair protein Msh6)
F10L (p.Phe10Leu) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
F10L (p.Phe10Leu) variant details
- p.Phe10Leu
- rs773861137
- ClinGen CA069791
- ClinVar RCV002438061
- ClinVar RCV003594302
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.58
- MetaLR 0.47
- MetaSVM -0.05
- CADD 24.90
- PolyPhen-2 0.16
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- 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)