Q51* (p.Gln51Ter) variant of MLH3 (DNA mismatch repair protein Mlh3)
Q51* (p.Gln51Ter) in MLH3 (DNA mismatch repair protein Mlh3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Q51* (p.Gln51Ter) variant details
- p.Gln51Ter
- gnomAD rs1335415965
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 36.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available