F10C (p.Phe10Cys) variant of MSH6 (DNA mismatch repair protein Msh6)
F10C (p.Phe10Cys) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
F10C (p.Phe10Cys) variant details
- p.Phe10Cys
- rs1668110702
- ClinGen CA346734515
- ClinVar RCV001222244
- ClinVar RCV003163717
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.68
- MetaLR 0.69
- MetaSVM 0.50
- CADD 29.40
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)