T117R (p.Thr117Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
T117R (p.Thr117Arg) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T117R (p.Thr117Arg) variant details
- p.Thr117Arg
- rs63750781
- ClinGen CA009864
- NCI-TCGA Cosmic COSV5161
- ClinVar RCV000075665
- Likely pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Lynch syndrome 1)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. (PMID 10375096)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)