V429E (p.Val429Glu) variant of FGFR1 (P11362)
V429E (p.Val429Glu) 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 0.69 / 1. The record also includes published literature and structural context.
V429E (p.Val429Glu) variant details
- p.Val429Glu
- rs2150680046
- ClinGen CA370733450
- ClinVar RCV003234703
- Ensembl rs2150680046
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.45
- MetaLR 0.73
- MetaSVM 0.51
- PolyPhen-2 1.00
- SIFT 0.10
- MutPred 0.31
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)