A20A (p.Ala20Ala) variant of MLH1 (DNA mismatch repair protein Mlh1)
A20A (p.Ala20Ala) in MLH1 (DNA mismatch repair protein Mlh1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A20A (p.Ala20Ala) variant details
- p.Ala20Ala
- rs2080897097
- gnomAD 3-36993607-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 15.30
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available