T347I (p.Thr347Ile) variant of MLH1 (DNA mismatch repair protein Mlh1)
T347I (p.Thr347Ile) 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 Colorectal cancer, hereditary nonpolyposis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T347I (p.Thr347Ile) variant details
- p.Thr347Ile
- rs201541505
- ClinGen CA352052026
- NCI-TCGA Cosmic COSV5162
- cosmic curated COSV51624
- Likely pathogenic
- Colorectal cancer, hereditary nonpolyposis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 25.00
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Likely pathogenic (Colorectal cancer, hereditary nonpolyposis, type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)