C114W (p.Cys114Trp) variant of ATXN3 (Ataxin-3)
C114W (p.Cys114Trp) in ATXN3 (Ataxin-3) is a missense change. Clinical records from ClinVar 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 0.70 / 1. The record also includes population frequency data.
C114W (p.Cys114Trp) variant details
- p.Cys114Trp
- TOPMed rs1396554919
- gnomAD rs1396554919
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)