K22T (p.Lys22Thr) variant of MSH6 (DNA mismatch repair protein Msh6)
K22T (p.Lys22Thr) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K22T (p.Lys22Thr) variant details
- p.Lys22Thr
- rs1668115116
- ClinGen CA346734576
- ClinVar RCV001049583
- ClinVar RCV003160386
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.13
- MetaLR 0.40
- MetaSVM -0.58
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)