Q4E (p.Gln4Glu) variant of MSH6 (DNA mismatch repair protein Msh6)
Q4E (p.Gln4Glu) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q4E (p.Gln4Glu) variant details
- p.Gln4Glu
- rs786201042
- ClinGen CA346734475
- ClinVar RCV003760054
- TOPMed rs786201042
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.48
- MetaLR 0.62
- MetaSVM 0.39
- CADD 23.20
- PolyPhen-2 0.16
- SIFT 0.22
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available