G348E (p.Gly348Glu) variant of FGFR1 (P11362)
G348E (p.Gly348Glu) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypogonadotropic hypogonadism 2 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G348E (p.Gly348Glu) variant details
- p.Gly348Glu
- rs1818930617
- ClinGen CA370734148
- cosmic curated COSV10966
- ClinVar RCV001251089
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Likely pathogenic (in HH2)
- UniProt: Likely pathogenic (in HH2)
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)