L34M (p.Leu34Met) variant of MSH3 (DNA mismatch repair protein Msh3)
L34M (p.Leu34Met) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L34M (p.Leu34Met) variant details
- p.Leu34Met
- gnomAD 5-80654827-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.25
- CADD 23.60
- PolyPhen-2 0.79
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available