Q129H (p.Gln129His) variant of ATXN3 (Ataxin-3)
Q129H (p.Gln129His) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data.
Q129H (p.Gln129His) variant details
- p.Gln129His
- cosmic curated COSV10051
- gnomAD rs1170864070
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- CADD 35.00
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available