E15Q (p.Glu15Gln) variant of WWOX (Q9NZC7)
E15Q (p.Glu15Gln) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar 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 0.81 / 1. The record also includes population frequency data and structural context.
E15Q (p.Glu15Gln) variant details
- p.Glu15Gln
- TOPMed rs1315934801
- gnomAD rs1315934801
- Uncertain significance
- Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal recessive spinocerebellar ataxia 12; Developmental and)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available