P663R (p.Pro663Arg) variant of FGFR1 (P11362)
P663R (p.Pro663Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
P663R (p.Pro663Arg) variant details
- p.Pro663Arg
- rs2150552237
- ClinGen CA370729772
- ClinVar RCV003988714
- Ensembl rs2150552237
- Pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)