I19M (p.Ile19Met) variant of MLH1 (DNA mismatch repair protein Mlh1)
I19M (p.Ile19Met) 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; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
I19M (p.Ile19Met) variant details
- p.Ile19Met
- rs762647509
- ClinGen CA352060791
- ClinVar RCV001185639
- ExAC rs762647509
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- ESM-1b 1.00
- AlphaMissense 0.93
- MutPred 0.76
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Likely benign (in LYNCH2)
- UniProt: Likely benign (in LYNCH2)
- 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)