Q24* (p.Gln24Ter) variant of MLH3 (DNA mismatch repair protein Mlh3)
Q24* (p.Gln24Ter) in MLH3 (DNA mismatch repair protein Mlh3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HNPCC7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- rs28937870
- ClinGen CA390451759
- ClinVar RCV004055256
- Uncertain significance
- in HNPCC7
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.14
- MetaLR 0.37
- MetaSVM -0.30
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.68
- EBI: Variant of uncertain significance (in HNPCC7)
- UniProt: Uncertain significance (in HNPCC7)
- Structural context available