L18V (p.Leu18Val) variant of WWOX (Q9NZC7)
L18V (p.Leu18Val) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Autosomal recessive spinocerebellar ataxia 12; Developmental and e. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- rs776553279
- ClinGen CA8182982
- ClinVar RCV001341234
- ClinVar RCV006437042
- Uncertain significance
- not provided; Autosomal recessive spinocerebellar ataxia 12; Developmental and e
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Autosomal recessive spinocerebellar ataxia 12; Dev)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available