S18R (p.Ser18Arg) variant of MSH6 (DNA mismatch repair protein Msh6)
S18R (p.Ser18Arg) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S18R (p.Ser18Arg) variant details
- p.Ser18Arg
- rs1553408122
- ClinGen CA346734549
- ClinVar RCV000580185
- ClinVar RCV000629974
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.14
- MetaLR 0.29
- MetaSVM -0.88
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.56
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)