P1214R (p.Pro1214Arg) variant of NLRP1 (Q9C000)
P1214R (p.Pro1214Arg) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autoinflammation with arthritis and dyskeratosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature.
P1214R (p.Pro1214Arg) variant details
- p.Pro1214Arg
- rs1057524876
- ClinGen CA16609235
- ClinVar RCV000445359
- ClinVar RCV002526366
- Pathogenic/Likely pathogenic
- Autoinflammation with arthritis and dyskeratosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.33
- MetaLR 0.11
- MetaSVM -1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.63
- ClinVar: Pathogenic/Likely pathogenic (Autoinflammation with arthritis and dyskeratosis; not provided)
- EBI: Pathogenic (in AIADK)
- UniProt: Pathogenic (in AIADK)
- Cited in: A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated… (PMID 27965258)
- Cited in: Human DPP9 represses NLRP1 inflammasome and protects against autoinflammatory diseases via both peptidase activity and… (PMID 30291141)