Q411R (p.Gln411Arg) variant of MUTYH (Adenine DNA glycosylase)
Q411R (p.Gln411Arg) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gastric cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
Q411R (p.Gln411Arg) variant details
- p.Gln411Arg
- rs121908383
- ClinGen CA011596
- ClinVar RCV000005620
- UniProt VAR 026050
- Pathogenic
- Gastric cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.13
- EVE 0.11
- ClinVar: Pathogenic (Gastric cancer)
- EBI: Pathogenic (in GASC)
- UniProt: Pathogenic (in GASC)
- Structural context available
- Cited in: Genetic alterations of the MYH gene in gastric cancer. (PMID 15273732)
- Cited in: Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. (PMID 25820570)