A12S (p.Ala12Ser) variant of SETX (Helicase senataxin)
A12S (p.Ala12Ser) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- rs763609145
- ClinGen CA5298150
- ClinVar RCV003797792
- ClinVar RCV006454485
- Conflicting interpretations
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.30
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Conflicting classifications of pathogenicity (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)