A2S (p.Ala2Ser) variant of WWOX (Q9NZC7)
A2S (p.Ala2Ser) in WWOX (Q9NZC7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 16-78099782-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available