P20A (p.Pro20Ala) variant of WWOX (Q9NZC7)
P20A (p.Pro20Ala) in WWOX (Q9NZC7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- ExAC rs768240338
- TOPMed rs768240338
- gnomAD rs768240338
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 22.60
- PolyPhen-2 0.24
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available