Y21C (p.Tyr21Cys) variant of SETX (Helicase senataxin)
Y21C (p.Tyr21Cys) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y21C (p.Tyr21Cys) variant details
- p.Tyr21Cys
- rs780157648
- ClinGen CA5298140
- ClinVar RCV003785771
- ExAC rs780157648
- Likely benign
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.55
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)