K19R (p.Lys19Arg) variant of SETX (Helicase senataxin)
K19R (p.Lys19Arg) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K19R (p.Lys19Arg) variant details
- p.Lys19Arg
- gnomAD rs1848483700
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.24
- CADD 14.50
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available