E63K (p.Glu63Lys) variant of NLRP1 (Q9C000)
E63K (p.Glu63Lys) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
E63K (p.Glu63Lys) variant details
- p.Glu63Lys
- 1000Genomes rs564787076
- gnomAD rs564787076
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 19.80
- PolyPhen-2 0.61
- SIFT 0.05
- Most common in the 1KG:KHV population (allele frequency 0.005)