G380R (p.Gly380Arg) variant of FGFR3 (P22607)
G380R (p.Gly380Arg) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR3-related chondrodysplasia; not provided; Hypochondroplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G380R (p.Gly380Arg) variant details
- p.Gly380Arg
- rs28931614
- ClinGen CA280218
- cosmic curated COSV99602
- ClinVar RCV000017725
- Pathogenic
- FGFR3-related chondrodysplasia; not provided; Hypochondroplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.70
- CADD 23.80
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Pathogenic (Achondroplasia)
- EBI: Pathogenic (in keratinocytic non-epidermolytic nevus and ACH)
- UniProt: Pathogenic (in keratinocytic non-epidermolytic nevus and ACH)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation… (PMID 10611230)
- Cited in: FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation. (PMID 12297284)