G481D (p.Gly481Asp) variant of NOD2 (Q9HC29)
G481D (p.Gly481Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G481D (p.Gly481Asp) variant details
- p.Gly481Asp
- rs104895494
- ClinGen CA150205
- ClinVar RCV000084087
- ClinVar RCV005222745
- Pathogenic
- Blau syndrome; Regional enteritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- AlphaMissense 0.57
- MetaLR 0.52
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Blau syndrome; Regional enteritis)
- EBI: Pathogenic (in BLAUS)
- UniProt: Pathogenic (in BLAUS)
- Population evidence available
- Structural context available
- Cited in: Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15. (PMID 19359344)
- Cited in: Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. (PMID 25093298)