S2L (p.Ser2Leu) variant of MSH6 (DNA mismatch repair protein Msh6)
S2L (p.Ser2Leu) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- rs752887988
- ClinGen CA073146
- ClinVar RCV001039473
- ClinVar RCV002354992
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.54
- MetaLR 0.68
- MetaSVM 0.51
- CADD 24.80
- PolyPhen-2 0.38
- SIFT 0.02
- EBI: Benign
- UniProt: 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)