N24S (p.Asn24Ser) variant of SETX (Helicase senataxin)
N24S (p.Asn24Ser) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
N24S (p.Asn24Ser) variant details
- p.Asn24Ser
- rs981346599
- ClinGen CA200838232
- ClinVar RCV000531183
- ClinVar RCV003233735
- Uncertain significance
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.21
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)