G348R (p.Gly348Arg) variant of FGFR1 (P11362)
G348R (p.Gly348Arg) 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; not provided; FGFR1-rel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G348R (p.Gly348Arg) variant details
- p.Gly348Arg
- rs886037634
- Ensembl rs886037634
- ClinGen CA10575577
- NCI-TCGA Cosmic COSV1002
- Pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia; not provided; FGFR1-rel
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia; not pro)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic… (PMID 23643382)
- Cited in: The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in… (PMID 25077900)