T14R (p.Thr14Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
T14R (p.Thr14Arg) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T14R (p.Thr14Arg) variant details
- p.Thr14Arg
- rs774363593
- ClinGen CA352060647
- ClinVar RCV003358382
- ExAC rs774363593
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 24.10
- PolyPhen-2 0.29
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)