T12R (p.Thr12Arg) variant of WWOX (Q9NZC7)
T12R (p.Thr12Arg) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
T12R (p.Thr12Arg) variant details
- p.Thr12Arg
- rs1567567249
- ClinGen CA396841793
- ClinVar RCV000690341
- ClinVar RCV002286420
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 28.80
- PolyPhen-2 0.81
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 1; Autosomal recessi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available