R250Q (p.Arg250Gln) variant of FGFR1 (P11362)
R250Q (p.Arg250Gln) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
R250Q (p.Arg250Gln) variant details
- p.Arg250Gln
- rs121909645
- ClinGen CA260625
- cosmic curated COSV58335
- ClinVar RCV000030940
- Pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 0.99
- MetaLR 0.72
- MetaSVM 0.51
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.41
- ClinVar: Pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. (PMID 18596921)
- Cited in: Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. (PMID 19820032)