D11V (p.Asp11Val) variant of WWOX (Q9NZC7)
D11V (p.Asp11Val) 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 0.65 / 1. The record also includes population frequency data and structural context.
D11V (p.Asp11Val) variant details
- p.Asp11Val
- rs1597189624
- ClinGen CA396841785
- ClinVar RCV000805638
- Ensembl rs1597189624
- Uncertain significance
- Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 29.10
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 1; Autosomal recessi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available