F584C (p.Phe584Cys) variant of KIT (P10721)
F584C (p.Phe584Cys) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Piebaldism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
F584C (p.Phe584Cys) variant details
- p.Phe584Cys
- rs28933371
- ClinGen CA123543
- ClinVar RCV000014878
- UniProt VAR 033129
- Pathogenic
- Piebaldism
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Piebaldism)
- EBI: Pathogenic (in PBT)
- UniProt: Pathogenic (in PBT)
- Structural context available
- Cited in: Three novel mutations of the proto-oncogene KIT cause human piebaldism. (PMID 11074500)
- Cited in: Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in… (PMID 1370874)