Q764H (p.Gln764His) variant of FGFR1 (P11362)
Q764H (p.Gln764His) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q764H (p.Gln764His) variant details
- p.Gln764His
- rs121909643
- ClinGen CA260622
- ClinVar RCV000030938
- TOPMed rs121909643
- Uncertain significance
- not provided; Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.45
- CADD 34.00
- PolyPhen-2 0.72
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Hypogonadotropic hypogonadism 2 with or without an)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. (PMID 18596921)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)