P26R (p.Pro26Arg) variant of SETX (Helicase senataxin)
P26R (p.Pro26Arg) 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 0.32 / 1. The record also includes published literature and structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- rs377617692
- ClinGen CA10629250
- ClinVar RCV000312389
- ClinVar RCV000408198
- Uncertain significance
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.07
- MetaLR 0.20
- MetaSVM -0.81
- PolyPhen-2 0.00
- SIFT 0.26
- EVE 0.06
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Benign
- UniProt: Benign
- 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)