N264H (p.Asn264His) variant of FGFR1 (P11362)
N264H (p.Asn264His) 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 0.68 / 1. The record also includes published literature and structural context.
N264H (p.Asn264His) variant details
- p.Asn264His
- rs515726223
- ClinGen CA269805
- ClinVar RCV000119058
- Ensembl rs515726223
- Pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.96
- MetaLR 0.59
- MetaSVM 0.22
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.89
- 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)