T26N (p.Thr26Asn) variant of FGFR1 (P11362)
T26N (p.Thr26Asn) 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 0.46 / 1. The record also includes published literature and structural context.
T26N (p.Thr26Asn) variant details
- p.Thr26Asn
- rs1833133571
- ClinGen CA370767146
- ClinVar RCV002036465
- TOPMed rs1833133571
- Uncertain significance
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.09
- MetaLR 0.53
- MetaSVM -0.04
- PolyPhen-2 0.02
- SIFT 0.18
- MutPred 0.20
- ClinVar: Uncertain significance (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)