G384R (p.Gly384Arg) variant of FGFR2 (P21802)
G384R (p.Gly384Arg) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant FGFR2-related disorders; Beare-Stevenson cutis gyrata syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
G384R (p.Gly384Arg) variant details
- p.Gly384Arg
- rs1554927408
- ClinGen CA378327226
- NCI-TCGA Cosmic COSV6064
- Pathogenic/Likely pathogenic
- Autosomal dominant FGFR2-related disorders; Beare-Stevenson cutis gyrata syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.82
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.49
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant FGFR2-related disorders; Beare-Stevenson cuti)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2… (PMID 8946174)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)