D10E (p.Asp10Glu) variant of WWOX (Q9NZC7)
D10E (p.Asp10Glu) in WWOX (Q9NZC7) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D10E (p.Asp10Glu) variant details
- p.Asp10Glu
- ESP rs373146723
- ExAC rs373146723
- TOPMed rs373146723
- gnomAD rs373146723
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 8.69
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available