A22S (p.Ala22Ser) variant of SETX (Helicase senataxin)
A22S (p.Ala22Ser) 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 0.65 / 1. The record also includes published literature and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- rs756600708
- ClinGen CA375352034
- ClinVar RCV000644832
- ExAC rs756600708
- Uncertain significance
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.18
- MetaLR 0.73
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- 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)