T66I (p.Thr66Ile) variant of SETX (Helicase senataxin)
T66I (p.Thr66Ile) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
T66I (p.Thr66Ile) variant details
- p.Thr66Ile
- rs776664916
- ClinGen CA5298103
- ClinVar RCV003804712
- ExAC rs776664916
- Likely benign
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- AlphaMissense 0.27
- MetaLR 0.58
- MetaSVM 0.47
- PolyPhen-2 0.98
- SIFT 0.07
- EVE 0.72
- ClinVar: Likely benign (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)