S144P (p.Ser144Pro) variant of ATXN3 (Ataxin-3)
S144P (p.Ser144Pro) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
S144P (p.Ser144Pro) variant details
- p.Ser144Pro
- TOPMed rs1300114789
- gnomAD rs1300114789
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 28.70
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)