S23R (p.Ser23Arg) variant of ATXN1 (Ataxin-1)
S23R (p.Ser23Arg) 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.
S23R (p.Ser23Arg) variant details
- p.Ser23Arg
- TOPMed rs1301516493
- gnomAD rs1301516493
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.17
- AlphaMissense 0.33
- CADD 24.40
- PolyPhen-2 0.80
- SIFT 0.02
- Population evidence available
- Structural context available