Q24H (p.Gln24His) variant of MLH3 (DNA mismatch repair protein Mlh3)
Q24H (p.Gln24His) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in HNPCC7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
Q24H (p.Gln24His) variant details
- p.Gln24His
- rs1371598567
- ClinGen CA390451747
- ClinVar RCV004599323
- TOPMed rs1371598567
- Likely benign
- in HNPCC7
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.43
- MetaLR 0.17
- MetaSVM -0.80
- PolyPhen-2 0.96
- SIFT 0.08
- MutPred 0.55
- EBI: Likely benign (in HNPCC7)
- UniProt: Likely benign (in HNPCC7)
- Structural context available