G664R (p.Gly664Arg) variant of KIT (P10721)
G664R (p.Gly664Arg) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G664R (p.Gly664Arg) variant details
- p.Gly664Arg
- rs121913679
- ClinGen CA123500
- ClinVar RCV000014855
- UniProt VAR 004106
- Pathogenic
- Piebaldism
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.81
- CADD 37.00
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Pathogenic (Piebaldism)
- EBI: Pathogenic (in PBT)
- UniProt: Pathogenic (in PBT)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in… (PMID 1370874)
- Cited in: Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. (PMID 1717985)