I8F (p.Ile8Phe) variant of MLH1 (DNA mismatch repair protein Mlh1)
I8F (p.Ile8Phe) 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 not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
I8F (p.Ile8Phe) variant details
- p.Ile8Phe
- rs1313488508
- ClinGen CA352060468
- ClinVar RCV002428468
- ClinVar RCV003098791
- Uncertain significance
- not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Uncertain significance (not provided; Hereditary nonpolyposis colorectal neoplasms; Here)
- 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)