H496L (p.His496Leu) variant of NOD2 (Q9HC29)
H496L (p.His496Leu) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Blau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature.
H496L (p.His496Leu) variant details
- p.His496Leu
- rs104895472
- ClinGen CA395869027
- ClinVar RCV002560633
- UniProt VAR 023824
- Pathogenic
- Blau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.32
- MetaLR 0.47
- MetaSVM -0.01
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.61
- ClinVar: Pathogenic (Blau syndrome)
- EBI: Pathogenic (in BLAUS)
- UniProt: Pathogenic (in BLAUS)
- Cited in: Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic… (PMID 15459013)
- Cited in: Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (PMID 19116920)