Y34C (p.Tyr34Cys) variant of WWOX (Q9NZC7)
Y34C (p.Tyr34Cys) 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 0.68 / 1. The record also includes population frequency data and structural context.
Y34C (p.Tyr34Cys) variant details
- p.Tyr34Cys
- rs766309882
- ClinGen CA10583429
- ClinVar RCV000230460
- ClinVar RCV004591089
- Uncertain significance
- Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive spinocerebellar ataxia 12; Developmental and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available