T102A (p.Thr102Ala) variant of SETX (Helicase senataxin)
T102A (p.Thr102Ala) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Spinocerebellar ataxia, autosomal recessive, with axona. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T102A (p.Thr102Ala) variant details
- p.Thr102Ala
- rs770962447
- ClinGen CA5298085
- ClinVar RCV001848119
- ClinVar RCV002034740
- Conflicting interpretations
- Inborn genetic diseases; Spinocerebellar ataxia, autosomal recessive, with axona
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.08
- CADD 16.10
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Spinocerebellar ataxia, autosomal reces)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)