N21K (p.Asn21Lys) variant of MSH6 (DNA mismatch repair protein Msh6)
N21K (p.Asn21Lys) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N21K (p.Asn21Lys) variant details
- p.Asn21Lys
- rs876660097
- Ensembl rs876660097
- ClinGen CA10578021
- ClinVar RCV000216301
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.10
- MetaLR 0.30
- MetaSVM -0.82
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)