E19G (p.Glu19Gly) variant of NLRP1 (Q9C000)
E19G (p.Glu19Gly) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- rs2508145090
- ClinGen CA397391285
- ClinVar RCV002903420
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance