T101M (p.Thr101Met) variant of ATXN1 (Ataxin-1)
T101M (p.Thr101Met) in ATXN1 (Ataxin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of ATXN1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T101M (p.Thr101Met) variant details
- p.Thr101Met
- 1000Genomes rs144411643
- ESP rs144411643
- ExAC rs144411643
- TOPMed rs144411643
- Likely benign
- ATXN1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.21
- AlphaMissense 0.69
- MetaLR 0.32
- MetaSVM -0.31
- CADD 25.60
- PolyPhen-2 1.00
- ClinVar: Likely benign (ATXN1-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available