D100G (p.Asp100Gly) variant of SETX (Helicase senataxin)
D100G (p.Asp100Gly) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D100G (p.Asp100Gly) variant details
- p.Asp100Gly
- gnomAD rs1365774411
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.21
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available