A3T (p.Ala3Thr) variant of WWOX (Q9NZC7)
A3T (p.Ala3Thr) 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 0.77 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs1336300148
- ClinGen CA396841736
- ClinVar RCV000533127
- ClinVar RCV001764599
- Uncertain significance
- Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal recessive spinocerebellar ataxia 12; Developmental and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available