D12D (p.Asp12Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
D12D (p.Asp12Asp) in MLH1 (DNA mismatch repair protein Mlh1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D12D (p.Asp12Asp) variant details
- p.Asp12Asp
- rs587782181
- gnomAD 3-36993583-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 14.50
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available