D105N (p.Asp105Asn) variant of ATXN3 (Ataxin-3)
D105N (p.Asp105Asn) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
D105N (p.Asp105Asn) variant details
- p.Asp105Asn
- cosmic curated COSV61494
- ExAC rs746205070
- TOPMed rs746205070
- gnomAD rs746205070
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the Middle Eastern population (allele frequency 0.0007)