E28* (p.Glu28Ter) variant of MLH3 (DNA mismatch repair protein Mlh3)
E28* (p.Glu28Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- rs780501758
- ClinGen CA7276097
- ClinVar RCV001922153
- ClinVar RCV004041257
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)