R587C (p.Arg587Cys) variant of NOD2 (Q9HC29)
R587C (p.Arg587Cys) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Blau syndrome; Regional enteritis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
R587C (p.Arg587Cys) variant details
- p.Arg587Cys
- rs104895479
- ClinGen CA150228
- NCI-TCGA Cosmic COSV5605
- cosmic curated COSV56054
- Pathogenic/Likely pathogenic
- Blau syndrome; Regional enteritis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.92
- PolyPhen-2 0.02
- SIFT 0.18
- EVE 0.17
- ClinVar: Pathogenic/Likely pathogenic (Blau syndrome; Regional enteritis; not provided)
- EBI: Pathogenic (in BLAUS)
- UniProt: Pathogenic (in BLAUS)
- Population evidence available
- Cited in: NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a… (PMID 19479837)
- Cited in: Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. (PMID 25093298)