W28L (p.Trp28Leu) variant of ATXN2 (Ataxin-2)
W28L (p.Trp28Leu) in ATXN2 (Ataxin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
W28L (p.Trp28Leu) variant details
- p.Trp28Leu
- Ensembl rs1885154704
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 15.90
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available