A3E (p.Ala3Glu) variant of WWOX (Q9NZC7)
A3E (p.Ala3Glu) 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 0.76 / 1. The record also includes population frequency data and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- rs1241157001
- TOPMed rs1241157001
- gnomAD rs1241157001
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available