N21S (p.Asn21Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
N21S (p.Asn21Ser) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
N21S (p.Asn21Ser) variant details
- p.Asn21Ser
- rs267608025
- ClinGen CA016053
- ClinVar RCV000223132
- ClinVar RCV000586767
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.85
- CADD 3.89
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)