T1847M (p.Thr1847Met) variant of SETX (Helicase senataxin)
T1847M (p.Thr1847Met) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spastic ataxia. 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.
T1847M (p.Thr1847Met) variant details
- p.Thr1847Met
- rs763859485
- ClinGen CA5296961
- ClinVar RCV001647217
- ExAC rs763859485
- Likely pathogenic
- Spastic ataxia
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.32
- CADD 27.40
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Likely pathogenic (Spastic ataxia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available