S28L (p.Ser28Leu) variant of MSH6 (DNA mismatch repair protein Msh6)
S28L (p.Ser28Leu) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S28L (p.Ser28Leu) variant details
- p.Ser28Leu
- rs750949635
- ClinGen CA073484
- ClinVar RCV000542898
- ClinVar RCV000567017
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.37
- MetaLR 0.47
- MetaSVM -0.06
- CADD 15.80
- PolyPhen-2 0.06
- SIFT 0.65
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)