E13K (p.Glu13Lys) variant of NOD2 (Q9HC29)
E13K (p.Glu13Lys) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Blau syndrome; Regional enteritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs2150776587
- ClinGen CA395864328
- ClinVar RCV002573392
- Uncertain significance
- Blau syndrome; Regional enteritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- MetaLR 0.14
- MetaSVM -0.97
- CADD 7.84
- SIFT 1.00
- ClinVar: Uncertain significance (Blau syndrome; Regional enteritis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available