E19K (p.Glu19Lys) variant of NLRP1 (Q9C000)
E19K (p.Glu19Lys) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- ExAC rs754678021
- gnomAD rs754678021
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 16.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)