E14K (p.Glu14Lys) variant of NLRP1 (Q9C000)
E14K (p.Glu14Lys) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- TOPMed rs1414256114
- gnomAD rs1414256114
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 19.10
- PolyPhen-2 0.90
- SIFT 0.11
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)