M513T (p.Met513Thr) variant of NOD2 (Q9HC29)
M513T (p.Met513Thr) 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 0.45 / 1. The record also includes published literature.
M513T (p.Met513Thr) variant details
- p.Met513Thr
- rs104895473
- ClinGen CA150217
- ClinVar RCV000084091
- ClinVar RCV002513872
- Pathogenic/Likely pathogenic
- Blau syndrome; Regional enteritis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 0.43
- MetaLR 0.38
- MetaSVM -0.17
- PolyPhen-2 0.73
- SIFT 0.00
- EVE 0.33
- ClinVar: Pathogenic/Likely pathogenic (Blau syndrome; Regional enteritis; not provided)
- 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)