N670K (p.Asn670Lys) variant of NOD2 (Q9HC29)
N670K (p.Asn670Lys) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rare genetic inflammatory skin disorders; Regional enteritis; Blau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature.
N670K (p.Asn670Lys) variant details
- p.Asn670Lys
- rs104895475
- ClinGen CA395870549
- ClinVar RCV000761493
- UniProt VAR 073242
- Uncertain significance
- Rare genetic inflammatory skin disorders; Regional enteritis; Blau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.80
- MetaLR 0.42
- MetaSVM -0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Uncertain significance (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)