D2207V (p.Asp2207Val) variant of SETX (Helicase senataxin)
D2207V (p.Asp2207Val) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D2207V (p.Asp2207Val) variant details
- p.Asp2207Val
- rs1564482221
- ClinGen CA375333501
- ClinVar RCV000995871
- gnomAD rs1564482221
- Pathogenic
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.96
- CADD 29.90
- ClinVar: Pathogenic (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)