G11D (p.Gly11Asp) variant of SETX (Helicase senataxin)
G11D (p.Gly11Asp) 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; not provided; Spinocerebellar ataxia, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- rs886063560
- ClinGen CA10626642
- ClinVar RCV000268908
- ClinVar RCV000323745
- Uncertain significance
- Amyotrophic lateral sclerosis type 4; not provided; Spinocerebellar ataxia, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.59
- MetaLR 0.66
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.74
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 4; not provided; Spinocerebel)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)