G6W (p.Gly6Trp) variant of MLH1 (DNA mismatch repair protein Mlh1)
G6W (p.Gly6Trp) 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 cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G6W (p.Gly6Trp) variant details
- p.Gly6Trp
- rs1366752604
- ClinGen CA352060401
- ClinVar RCV002308973
- ClinVar RCV002400445
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 32.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)