P745S (p.Pro745Ser) variant of FGFR1 (P11362)
P745S (p.Pro745Ser) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
P745S (p.Pro745Ser) variant details
- p.Pro745Ser
- rs2150521592
- ClinGen CA370727987
- ClinVar RCV003234723
- ClinVar RCV004529615
- Likely pathogenic
- FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1… (PMID 15001591)
- Cited in: Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor… (PMID 15845591)