R254Q (p.Arg254Gln) variant of FGFR1 (P11362)
R254Q (p.Arg254Gln) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R254Q (p.Arg254Gln) variant details
- p.Arg254Gln
- rs1820085287
- ClinGen CA370735156
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.65
- CADD 31.00
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive… (PMID 16764984)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)