D168N (p.Asp168Asn) variant of ATXN3 (Ataxin-3)
D168N (p.Asp168Asn) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
D168N (p.Asp168Asn) variant details
- p.Asp168Asn
- TOPMed rs987233279
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 23.00
- PolyPhen-2 0.24
- SIFT 0.22
- Most common in the East Asian population (allele frequency 2.5e-05)