R51K (p.Arg51Lys) variant of SETX (Helicase senataxin)
R51K (p.Arg51Lys) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R51K (p.Arg51Lys) variant details
- p.Arg51Lys
- rs777256092
- ClinGen CA200838145
- ClinVar RCV001770649
- ClinVar RCV002543999
- Uncertain significance
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.40
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)