A5D (p.Ala5Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
A5D (p.Ala5Asp) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A5D (p.Ala5Asp) variant details
- p.Ala5Asp
- rs2125736835
- gnomAD 3-37001041-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.27
- CADD 11.20
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available