E14Q (p.Glu14Gln) variant of NLRP1 (Q9C000)
E14Q (p.Glu14Gln) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- TOPMed rs1414256114
- gnomAD rs1414256114
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 21.50
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)