I19T (p.Ile19Thr) variant of ATXN1 (Ataxin-1)
I19T (p.Ile19Thr) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I19T (p.Ile19Thr) variant details
- p.Ile19Thr
- Ensembl rs75068405
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.38
- AlphaMissense 0.14
- MetaLR 0.16
- MetaSVM -0.77
- CADD 26.40
- PolyPhen-2 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available