H58D (p.His58Asp) variant of SETX (Helicase senataxin)
H58D (p.His58Asp) in SETX (Helicase senataxin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
H58D (p.His58Asp) variant details
- p.His58Asp
- ExAC rs757760067
- TOPMed rs757760067
- gnomAD rs757760067
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.58
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available