A2E (p.Ala2Glu) variant of WWOX (Q9NZC7)
A2E (p.Ala2Glu) in WWOX (Q9NZC7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 16-78099783-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.24
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available