R744I (p.Arg744Ile) variant of FGFR1 (P11362)
R744I (p.Arg744Ile) 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 0.97 / 1. The record also includes published literature and structural context.
R744I (p.Arg744Ile) variant details
- p.Arg744Ile
- rs2150521749
- ClinGen CA370727994
- ClinVar RCV003234722
- Ensembl rs2150521749
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- 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)