A2V (p.Ala2Val) variant of WWOX (Q9NZC7)
A2V (p.Ala2Val) 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 16-78099783-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available