K18* (p.Lys18Ter) variant of NLRP1 (Q9C000)
K18* (p.Lys18Ter) in NLRP1 (Q9C000) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1.
K18* (p.Lys18Ter) variant details
- p.Lys18Ter
- rs1165171576
- ClinGen CA397391294
- ClinVar RCV003860749
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.36
- AlphaMissense 0.17
- MetaLR 0.15
- MetaSVM -0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance