Q26R (p.Gln26Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
Q26R (p.Gln26Arg) 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 Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
Q26R (p.Gln26Arg) variant details
- p.Gln26Arg
- rs1553637312
- ClinGen CA352060922
- ClinVar RCV000554849
- ClinVar RCV004568714
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- ESM-1b 1.00
- AlphaMissense 0.84
- MutPred 0.63
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)