I8V (p.Ile8Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
I8V (p.Ile8Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- rs1313488508
- ClinGen CA352060461
- ClinVar RCV001183496
- gnomAD rs1313488508
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- ESM-1b 1.00
- AlphaMissense 0.75
- MutPred 0.77
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)