A3V (p.Ala3Val) variant of WWOX (Q9NZC7)
A3V (p.Ala3Val) 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 0.77 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs1241157001
- ClinGen CA396841741
- ClinVar RCV000812755
- TOPMed rs1241157001
- Uncertain significance
- Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 1; Autosomal recessi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available