E24D (p.Glu24Asp) variant of WWOX (Q9NZC7)
E24D (p.Glu24Asp) 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 0.47 / 1. The record also includes population frequency data and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- gnomAD rs1255601873
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 26.70
- PolyPhen-2 0.63
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available