N296S (p.Asn296Ser) variant of FGFR1 (P11362)
N296S (p.Asn296Ser) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypogonadotropic hypogonadism 2 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
N296S (p.Asn296Ser) variant details
- p.Asn296Ser
- rs1820048488
- ClinGen CA370734870
- ClinVar RCV001251090
- Ensembl rs1820048488
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.36
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.28
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)