Q82* (p.Gln82Ter) variant of MLH3 (DNA mismatch repair protein Mlh3)
Q82* (p.Gln82Ter) in MLH3 (DNA mismatch repair protein Mlh3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q82* (p.Gln82Ter) variant details
- p.Gln82Ter
- rs372763743
- ClinGen CA263653996
- ClinVar RCV001303540
- ClinVar RCV005005146
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)