R334W (p.Arg334Trp) variant of NOD2 (Q9HC29)
R334W (p.Arg334Trp) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature.
R334W (p.Arg334Trp) variant details
- p.Arg334Trp
- rs104895462
- ClinGen CA117022
- ClinVar RCV000004960
- ClinVar RCV001509512
- Pathogenic
- Blau syndrome; Regional enteritis; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.26
- MetaLR 0.68
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Blau syndrome; Regional enteritis; Inborn genetic diseases)
- EBI: Pathogenic (in BLAUS)
- UniProt: Pathogenic (in BLAUS)
- Cited in: CARD15 mutations in Blau syndrome. (PMID 11528384)
- Cited in: Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. (PMID 12626759)