T83R (p.Thr83Arg) variant of ATXN1 (Ataxin-1)
T83R (p.Thr83Arg) 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.
T83R (p.Thr83Arg) variant details
- p.Thr83Arg
- TOPMed rs1027738394
- gnomAD rs1027738394
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.10
- AlphaMissense 0.11
- MetaLR 0.08
- MetaSVM -0.95
- CADD 23.20
- PolyPhen-2 0.36
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available