A128T (p.Ala128Thr) variant of MLH1 (DNA mismatch repair protein Mlh1)
A128T (p.Ala128Thr) 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; Lynch syndrome; Hereditary nonpolyposis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A128T (p.Ala128Thr) variant details
- p.Ala128Thr
- rs63750866
- ClinGen CA352038962
- ClinVar RCV000792046
- ClinVar RCV001185870
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Lynch syndrome; Hereditary nonpolyposis
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Lynch syndrome; Heredit)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)