M1T (p.Met1Thr) variant of MLH1 (DNA mismatch repair protein Mlh1)
M1T (p.Met1Thr) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs111052004
- ClinGen CA009600
- ClinVar RCV000075621
- ClinVar RCV001800370
- Likely benign
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- ESM-1b 1.00
- AlphaMissense 0.66
- MutPred 0.99
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)