R78C (p.Arg78Cys) variant of FGFR1 (P11362)
R78C (p.Arg78Cys) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
R78C (p.Arg78Cys) variant details
- p.Arg78Cys
- rs1554570706
- ClinGen CA370736382
- NCI-TCGA Cosmic COSV5834
- cosmic curated COSV58343
- Pathogenic/Likely pathogenic
- not provided; Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.62
- MetaLR 0.64
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pfeiffer syndrome; Hypogonadotropic hypogonadism 2)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- 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)