Q26H (p.Gln26His) variant of MLH1 (DNA mismatch repair protein Mlh1)
Q26H (p.Gln26His) 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; Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
Q26H (p.Gln26His) variant details
- p.Gln26His
- rs2080901714
- ClinGen CA352060928
- ClinVar RCV001211630
- ClinVar RCV004010683
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- ESM-1b 1.00
- AlphaMissense 0.79
- MutPred 0.58
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome)
- 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: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)