W28C (p.Trp28Cys) variant of ATXN2 (Ataxin-2)
W28C (p.Trp28Cys) in ATXN2 (Ataxin-2) 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 0.35 / 1. The record also includes population frequency data.
W28C (p.Trp28Cys) variant details
- p.Trp28Cys
- TOPMed rs1041056056
- gnomAD rs1041056056
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 17.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)