G82E (p.Gly82Glu) variant of SETX (Helicase senataxin)
G82E (p.Gly82Glu) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Amyotrophic lateral sclerosis type 4; Spinocerebellar a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G82E (p.Gly82Glu) variant details
- p.Gly82Glu
- rs201864041
- ClinGen CA5298096
- ClinVar RCV001367166
- ClinVar RCV002456568
- Conflicting interpretations
- Inborn genetic diseases; Amyotrophic lateral sclerosis type 4; Spinocerebellar a
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.15
- CADD 12.10
- PolyPhen-2 0.01
- SIFT 0.59
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Amyotrophic lateral sclerosis type 4; S)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)