E63Q (p.Glu63Gln) variant of NLRP1 (Q9C000)
E63Q (p.Glu63Gln) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
E63Q (p.Glu63Gln) variant details
- p.Glu63Gln
- 1000Genomes rs564787076
- gnomAD rs564787076
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 8.61
- Most common in the East Asian population (allele frequency 0.00019)