W737R (p.Trp737Arg) variant of FGFR1 (P11362)
W737R (p.Trp737Arg) 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; Hypogonadotropic hypogo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
W737R (p.Trp737Arg) variant details
- p.Trp737Arg
- rs727505377
- ClinGen CA185896
- ClinVar RCV000156969
- ClinVar RCV003234550
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia; Hypogonadotropic hypogo
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia; Hypogon)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)