P283R (p.Pro283Arg) variant of FGFR1 (P11362)
P283R (p.Pro283Arg) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jack. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
P283R (p.Pro283Arg) variant details
- p.Pro283Arg
- rs1554562012
- ClinGen CA370734961
- ClinVar RCV003234690
- UniProt VAR 030985
- Uncertain significance
- Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jack
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.96
- SIFT 0.01
- EVE 0.26
- ClinVar: Uncertain significance (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in… (PMID 17154279)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)