S23F (p.Ser23Phe) variant of SETX (Helicase senataxin)
S23F (p.Ser23Phe) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S23F (p.Ser23Phe) variant details
- p.Ser23Phe
- rs1323126988
- ClinGen CA375352025
- ClinVar RCV000547708
- TOPMed rs1323126988
- Likely benign
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.20
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Likely benign (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)