T32I (p.Thr32Ile) variant of ATXN1 (Ataxin-1)
T32I (p.Thr32Ile) in ATXN1 (Ataxin-1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T32I (p.Thr32Ile) variant details
- p.Thr32Ile
- 1000Genomes rs150375774
- ESP rs150375774
- ExAC rs150375774
- TOPMed rs150375774
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.06
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.00
- CADD 7.14
- PolyPhen-2 0.10
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available