R22G (p.Arg22Gly) variant of FGFR1 (P11362)
R22G (p.Arg22Gly) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- rs148343099
- ClinGen CA4718945
- ClinVar RCV003801079
- ESP rs148343099
- Uncertain significance
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.59
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Variant of uncertain significance (in dbSNP:rs17175750)
- UniProt: Uncertain significance (in dbSNP:rs17175750)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)