T32S (p.Thr32Ser) variant of ATXN1 (Ataxin-1)
T32S (p.Thr32Ser) in ATXN1 (Ataxin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T32S (p.Thr32Ser) variant details
- p.Thr32Ser
- rs150375774
- ClinGen CA3645719
- ClinVar RCV001356166
- 1000Genomes rs150375774
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.00
- PolyPhen-2 0.10
- SIFT 0.27
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available