G147E (p.Gly147Glu) variant of MLH1 (DNA mismatch repair protein Mlh1)
G147E (p.Gly147Glu) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G147E (p.Gly147Glu) variant details
- p.Gly147Glu
- rs1060500702
- ClinGen CA352039355
- cosmic curated COSV51625
- ClinVar RCV000696093
- Likely pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Lynch syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)