G48D (p.Gly48Asp) variant of ATXN1 (Ataxin-1)
G48D (p.Gly48Asp) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- gnomAD rs1484269896
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.10
- CADD 17.50
- PolyPhen-2 0.02
- SIFT 0.07
- Population evidence available
- Structural context available