H38N (p.His38Asn) variant of ATXN3 (Ataxin-3)
H38N (p.His38Asn) 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 and structural context.
H38N (p.His38Asn) variant details
- p.His38Asn
- ExAC rs760232954
- TOPMed rs760232954
- gnomAD rs760232954
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 22.80
- PolyPhen-2 0.34
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available