I19N (p.Ile19Asn) variant of MLH1 (DNA mismatch repair protein Mlh1)
I19N (p.Ile19Asn) 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 0.94 / 1. The record also includes published literature and structural context.
I19N (p.Ile19Asn) variant details
- p.Ile19Asn
- rs2125694114
- ClinGen CA352060774
- ClinVar RCV002347565
- Ensembl rs2125694114
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.75
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in LYNCH2)
- UniProt: Uncertain significance (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)