N93D (p.Asn93Asp) variant of SETX (Helicase senataxin)
N93D (p.Asn93Asp) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N93D (p.Asn93Asp) variant details
- p.Asn93Asp
- 1000Genomes rs556595526
- ExAC rs556595526
- gnomAD rs556595526
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.23
- CADD 16.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available