E13D (p.Glu13Asp) variant of NOD2 (Q9HC29)
E13D (p.Glu13Asp) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- gnomAD 16-50697282-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- MetaLR 0.13
- MetaSVM -0.97
- CADD 4.30
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available