L11F (p.Leu11Phe) variant of MSH3 (DNA mismatch repair protein Msh3)
L11F (p.Leu11Phe) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- rs372442835
- ClinGen CA360264829
- ClinVar RCV002612964
- ClinVar RCV004065639
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.21
- CADD 0.08
- PolyPhen-2 0.02
- SIFT 0.64
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- 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)