A8E (p.Ala8Glu) variant of NOD2 (Q9HC29)
A8E (p.Ala8Glu) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- gnomAD 16-50699521-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- MetaLR 0.08
- MetaSVM -1.00
- CADD 23.40
- PolyPhen-2 0.84
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available