T14K (p.Thr14Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
T14K (p.Thr14Lys) 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 cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
T14K (p.Thr14Lys) variant details
- p.Thr14Lys
- rs774363593
- ClinGen CA352060620
- ClinVar RCV002327849
- ExAC rs774363593
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- ESM-1b 1.00
- AlphaMissense 0.18
- MutPred 0.36
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)