R29L (p.Arg29Leu) variant of MSH6 (DNA mismatch repair protein Msh6)
R29L (p.Arg29Leu) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- gnomAD 2-47783319-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.14
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available