Q31R (p.Gln31Arg) variant of SETX (Helicase senataxin)
Q31R (p.Gln31Arg) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q31R (p.Gln31Arg) variant details
- p.Gln31Arg
- rs1564165988
- ClinGen CA375351976
- ClinVar RCV003788821
- TOPMed rs1564165988
- Benign
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.09
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Benign (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-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)