N822I (p.Asn822Ile) variant of KIT (P10721)
N822I (p.Asn822Ile) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cutaneous mastocytosis. The record also includes variant effect predictions, published literature, and structural context.
N822I (p.Asn822Ile) variant details
- p.Asn822Ile
- rs993022333
- ClinGen CA16602410
- NCI-TCGA Cosmic COSV5540
- NCI-TCGA Cosmic COSV5541
- Pathogenic
- Cutaneous mastocytosis
- Missense
- MutPred 0.66
- ClinVar: Pathogenic (Cutaneous mastocytosis)
- EBI: Pathogenic (in MASTC)
- UniProt: Pathogenic (in MASTC)
- Structural context available
- Cited in: Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. (PMID 21689725)
- Cited in: A germline mutation in KIT in familial diffuse cutaneous mastocytosis. (PMID 15173254)