A5A (p.Ala5Ala) variant of MLH1 (DNA mismatch repair protein Mlh1)
A5A (p.Ala5Ala) in MLH1 (DNA mismatch repair protein Mlh1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- rs2080886445
- gnomAD 3-36993562-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 12.40
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Literature evidence available