R20H (p.Arg20His) variant of SETX (Helicase senataxin)
R20H (p.Arg20His) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- rs79740039
- ClinGen CA048242
- ClinVar RCV000144869
- ClinVar RCV000327408
- Benign/Likely benign
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.16
- CADD 3.28
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Benign/Likely benign (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)