Q701H (p.Gln701His) variant of MLH1 (DNA mismatch repair protein Mlh1)
Q701H (p.Gln701His) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
Q701H (p.Gln701His) variant details
- p.Gln701His
- rs63750603
- ClinGen CA008661
- ClinVar RCV000075534
- ClinVar RCV000694604
- Uncertain significance
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- ESM-1b 0.00
- AlphaMissense 0.10
- MutPred 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)