N603D (p.Asn603Asp) variant of SETX (Helicase senataxin)
N603D (p.Asn603Asp) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Hereditary spastic paraplegia; Spinocerebellar ataxia, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N603D (p.Asn603Asp) variant details
- p.Asn603Asp
- rs116205032
- ClinGen CA026956
- ClinVar RCV000002383
- ClinVar RCV000644848
- Benign/Likely benign
- not specified; Hereditary spastic paraplegia; Spinocerebellar ataxia, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.26
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Benign/Likely benign (not specified; Hereditary spastic paraplegia; Spinocerebellar at)
- EBI: Pathogenic (in SCAN2)
- UniProt: Pathogenic (in SCAN2)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. (PMID 17096168)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)