G687R (p.Gly687Arg) variant of FGFR1 (P11362)
G687R (p.Gly687Arg) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G687R (p.Gly687Arg) variant details
- p.Gly687Arg
- rs727505376
- ClinGen CA185894
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- Pathogenic
- Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or witho)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor… (PMID 15845591)
- Cited in: SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. (PMID 22927827)