R334Q (p.Arg334Gln) variant of NOD2 (Q9HC29)
R334Q (p.Arg334Gln) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Blau syndrome; Regional enteritis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
R334Q (p.Arg334Gln) variant details
- p.Arg334Gln
- rs104895461
- ClinGen CA395868022
- ClinVar RCV003740656
- UniProt VAR 012676
- Pathogenic
- Blau syndrome; Regional enteritis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- AlphaMissense 0.91
- MetaLR 0.74
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Blau syndrome; Regional enteritis; not provided)
- EBI: Pathogenic (in BLAUS)
- UniProt: Pathogenic (in BLAUS)
- Population evidence available
- Cited in: CARD15 mutations in Blau syndrome. (PMID 11528384)
- Cited in: Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. (PMID 12626759)