Q31H (p.Gln31His) variant of SETX (Helicase senataxin)
Q31H (p.Gln31His) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.18 / 1. The record also includes population frequency data and structural context.
Q31H (p.Gln31His) variant details
- p.Gln31His
- 1000Genomes rs201795631
- ExAC rs201795631
- TOPMed rs201795631
- gnomAD rs201795631
- Benign
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.28
- CADD 0.09
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Benign (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available