L18M (p.Leu18Met) variant of WWOX (Q9NZC7)
L18M (p.Leu18Met) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- rs776553279
- ClinGen CA396841832
- ClinVar RCV000690342
- ExAC rs776553279
- Uncertain significance
- Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 1; Autosomal recessi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available