A533D (p.Ala533Asp) variant of KIT (P10721)
A533D (p.Ala533Asp) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
A533D (p.Ala533Asp) variant details
- p.Ala533Asp
- rs753212327
- ClinGen CA356907069
- NCI-TCGA Cosmic COSV5538
- NCI-TCGA Cosmic COSV5541
- Pathogenic
- Cutaneous mastocytosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.97
- MetaLR 0.69
- MetaSVM 0.40
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.61
- ClinVar: Pathogenic (Cutaneous mastocytosis)
- EBI: Pathogenic (in MASTC)
- UniProt: Pathogenic (in MASTC)
- Structural context available
- Cited in: A germline mutation in KIT in familial diffuse cutaneous mastocytosis. (PMID 15173254)
- Cited in: Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. (PMID 19865100)