I8M (p.Ile8Met) variant of MLH1 (DNA mismatch repair protein Mlh1)
I8M (p.Ile8Met) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I8M (p.Ile8Met) variant details
- p.Ile8Met
- rs748406142
- ClinGen CA352060477
- ClinVar RCV001061739
- ClinVar RCV002429695
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- 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)