D16E (p.Asp16Glu) variant of SETX (Helicase senataxin)
D16E (p.Asp16Glu) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D16E (p.Asp16Glu) variant details
- p.Asp16Glu
- gnomAD rs1354676019
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.12
- CADD 8.67
- PolyPhen-2 0.08
- SIFT 0.85
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available