M1I (p.Met1Ile) variant of MLH1 (DNA mismatch repair protein Mlh1)
M1I (p.Met1Ile) 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 0.85 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs72481822
- ClinGen CA010267
- ClinVar RCV000075700
- ClinVar RCV000215403
- Likely pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- ESM-1b 1.00
- AlphaMissense 0.55
- MutPred 0.99
- ClinVar: Likely pathogenic (Lynch syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)