Y56* (p.Tyr56Ter) variant of NLRP1 (Q9C000)
Y56* (p.Tyr56Ter) in NLRP1 (Q9C000) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance.
Y56* (p.Tyr56Ter) variant details
- p.Tyr56Ter
- rs2151832864
- ClinGen CA397391026
- ClinVar RCV001876595
- ClinVar RCV005238014
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance