A5T (p.Ala5Thr) variant of MLH1 (DNA mismatch repair protein Mlh1)
A5T (p.Ala5Thr) 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 0.28 / 1. The record also includes published literature and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs1389945622
- ClinGen CA352060368
- ClinVar RCV002389245
- gnomAD rs1389945622
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- ESM-1b 0.00
- AlphaMissense 0.33
- MutPred 0.43
- 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)