K18E (p.Lys18Glu) variant of NLRP1 (Q9C000)
K18E (p.Lys18Glu) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
K18E (p.Lys18Glu) variant details
- p.Lys18Glu
- gnomAD rs1165171576
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- AlphaMissense 0.17
- MetaLR 0.15
- MetaSVM -0.92
- CADD 18.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)