C178G (p.Cys178Gly) variant of FGFR1 (P11362)
C178G (p.Cys178Gly) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.94 / 1. The record also includes published literature and structural context.
C178G (p.Cys178Gly) variant details
- p.Cys178Gly
- rs2150914598
- ClinGen CA370735696
- ClinVar RCV003817675
- Ensembl rs2150914598
- Likely pathogenic
- Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.92
- ClinVar: Likely pathogenic (Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or witho)
- EBI: Likely pathogenic (in HH2)
- UniProt: Likely pathogenic (in HH2)
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)