F11L (p.Phe11Leu) variant of MSH6 (DNA mismatch repair protein Msh6)
F11L (p.Phe11Leu) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
F11L (p.Phe11Leu) variant details
- p.Phe11Leu
- rs747802641
- ClinGen CA012766
- ClinVar RCV000166008
- ClinVar RCV000679237
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.58
- MetaLR 0.57
- MetaSVM 0.15
- CADD 25.40
- PolyPhen-2 0.33
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00044)
- 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)