E52K (p.Glu52Lys) variant of NLRP1 (Q9C000)
E52K (p.Glu52Lys) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- gnomAD rs1275742245
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 15.90
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)