T27N (p.Thr27Asn) variant of WWOX (Q9NZC7)
T27N (p.Thr27Asn) 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 0.76 / 1. The record also includes population frequency data and structural context.
T27N (p.Thr27Asn) variant details
- p.Thr27Asn
- gnomAD rs1256733742
- Uncertain significance
- Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 24.70
- PolyPhen-2 0.68
- SIFT 0.05
- ClinVar: Uncertain significance (Autosomal recessive spinocerebellar ataxia 12; Developmental and)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available