F27L (p.Phe27Leu) variant of MSH3 (DNA mismatch repair protein Msh3)
F27L (p.Phe27Leu) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
F27L (p.Phe27Leu) variant details
- p.Phe27Leu
- rs749586225
- ClinGen CA360265234
- ClinVar RCV004513726
- ExAC rs749586225
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.53
- CADD 22.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)