S80* (p.Ser80Ter) variant of MLH3 (DNA mismatch repair protein Mlh3)
S80* (p.Ser80Ter) 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 0.61 / 1. The record also includes population frequency data and structural context.
S80* (p.Ser80Ter) variant details
- p.Ser80Ter
- cosmic curated COSV99465
- TOPMed rs1566610687
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available