S5N (p.Ser5Asn) variant of MSH6 (DNA mismatch repair protein Msh6)
S5N (p.Ser5Asn) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- rs532585602
- ClinGen CA346734484
- ClinVar RCV000562870
- ClinVar RCV000821829
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.31
- MetaLR 0.49
- MetaSVM -0.21
- CADD 22.20
- PolyPhen-2 0.17
- SIFT 0.77
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)