E2A (p.Glu2Ala) variant of NOD1 (Q9Y239)
E2A (p.Glu2Ala) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- ExAC rs764253327
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.13
- CADD 17.40
- PolyPhen-2 0.06
- SIFT 0.11
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available