G159D (p.Gly159Asp) variant of ATXN3 (Ataxin-3)
G159D (p.Gly159Asp) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
G159D (p.Gly159Asp) variant details
- p.Gly159Asp
- TOPMed rs1375673230
- gnomAD rs1375673230
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 27.70
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)