T83K (p.Thr83Lys) variant of ATXN1 (Ataxin-1)
T83K (p.Thr83Lys) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T83K (p.Thr83Lys) variant details
- p.Thr83Lys
- TOPMed rs1027738394
- gnomAD rs1027738394
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.07
- AlphaMissense 0.35
- MetaLR 0.09
- MetaSVM -0.88
- CADD 22.40
- PolyPhen-2 0.73
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available