N24K (p.Asn24Lys) variant of SETX (Helicase senataxin)
N24K (p.Asn24Lys) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N24K (p.Asn24Lys) variant details
- p.Asn24Lys
- Ensembl rs1848481750
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.10
- CADD 0.31
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available