D91G (p.Asp91Gly) variant of SETX (Helicase senataxin)
D91G (p.Asp91Gly) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D91G (p.Asp91Gly) variant details
- p.Asp91Gly
- rs1327343862
- ClinGen CA375351550
- ClinVar RCV000999255
- gnomAD rs1327343862
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.65
- CADD 25.50
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available