H58Y (p.His58Tyr) variant of SETX (Helicase senataxin)
H58Y (p.His58Tyr) 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; not provided; Amyotrophic lateral sclerosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H58Y (p.His58Tyr) variant details
- p.His58Tyr
- rs757760067
- ClinGen CA200838114
- ClinVar RCV001049138
- ClinVar RCV002404330
- Conflicting interpretations
- Inborn genetic diseases; not provided; Amyotrophic lateral sclerosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.53
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Amyotrophic lateral scler)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)