A12D (p.Ala12Asp) variant of MSH3 (DNA mismatch repair protein Msh3)
A12D (p.Ala12Asp) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A12D (p.Ala12Asp) variant details
- p.Ala12Asp
- gnomAD 5-80654762-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.19
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available