K22R (p.Lys22Arg) variant of MSH6 (DNA mismatch repair protein Msh6)
K22R (p.Lys22Arg) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K22R (p.Lys22Arg) variant details
- p.Lys22Arg
- gnomAD 2-47783298-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available