Q26K (p.Gln26Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
Q26K (p.Gln26Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
Q26K (p.Gln26Lys) variant details
- p.Gln26Lys
- rs63749827
- ClinGen CA352060914
- ClinVar RCV003758374
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- ESM-1b 1.00
- AlphaMissense 0.88
- MutPred 0.53
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available