V32I (p.Val32Ile) variant of WWOX (Q9NZC7)
V32I (p.Val32Ile) 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 0.56 / 1. The record also includes structural context.
V32I (p.Val32Ile) variant details
- p.Val32Ile
- rs2031635728
- ClinGen CA396841924
- ClinVar RCV001366966
- Ensembl rs2031635728
- Uncertain significance
- Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.11
- MetaLR 0.66
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.66
- ClinVar: Uncertain significance (Autosomal recessive spinocerebellar ataxia 12; Developmental and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available