Q78R (p.Gln78Arg) variant of ATXN3 (Ataxin-3)
Q78R (p.Gln78Arg) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q78R (p.Gln78Arg) variant details
- p.Gln78Arg
- cosmic curated COSV61495
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available