G490V (p.Gly490Val) variant of FGFR1 (P11362)
G490V (p.Gly490Val) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G490V (p.Gly490Val) variant details
- p.Gly490Val
- rs1586172462
- ClinGen CA370733080
- ClinVar RCV000988049
- Ensembl rs1586172462
- Uncertain significance
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Likely pathogenic (in HRTFDS)
- UniProt: Likely pathogenic (in HRTFDS)
- Structural context available
- Cited in: Osteoglophonic Dysplasia. (PMID 38648328)