E15D (p.Glu15Asp) variant of WWOX (Q9NZC7)
E15D (p.Glu15Asp) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E15D (p.Glu15Asp) variant details
- p.Glu15Asp
- rs770319919
- ClinGen CA396841817
- ClinVar RCV001070799
- ExAC rs770319919
- Uncertain significance
- Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 22.70
- PolyPhen-2 0.22
- SIFT 0.21
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 1; Autosomal recessi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available