E17D (p.Glu17Asp) variant of WWOX (Q9NZC7)
E17D (p.Glu17Asp) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- rs991773402
- ClinGen CA284502472
- ClinVar RCV000551267
- ClinVar RCV003153725
- Uncertain significance
- Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal recessive spinocerebellar ataxia 12; Developmental and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available