K28E (p.Lys28Glu) variant of WWOX (Q9NZC7)
K28E (p.Lys28Glu) 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 0.59 / 1. The record also includes population frequency data and structural context.
K28E (p.Lys28Glu) variant details
- p.Lys28Glu
- rs771726317
- ClinGen CA396841895
- ClinVar RCV003111859
- ExAC rs771726317
- Uncertain significance
- Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 1.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 1; Autosomal recessi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available