N144D (p.Asn144Asp) variant of SETX (Helicase senataxin)
N144D (p.Asn144Asp) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
N144D (p.Asn144Asp) variant details
- p.Asn144Asp
- TOPMed rs1589775185
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.34
- CADD 26.00
- PolyPhen-2 0.88
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available