Q653K (p.Gln653Lys) variant of SETX (Helicase senataxin)
Q653K (p.Gln653Lys) 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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q653K (p.Gln653Lys) variant details
- p.Gln653Lys
- rs116333061
- ClinGen CA027112
- ClinVar RCV000002383
- ClinVar RCV000644849
- Benign/Likely benign
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.22
- CADD 9.30
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Benign/Likely benign (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Pathogenic (in SCAN2)
- UniProt: Pathogenic (in SCAN2)
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)