C6S (p.Cys6Ser) variant of FGFR1 (P11362)
C6S (p.Cys6Ser) 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 0.35 / 1. The record also includes published literature and structural context.
C6S (p.Cys6Ser) variant details
- p.Cys6Ser
- rs2151346848
- ClinGen CA370767262
- ClinVar RCV003802617
- Ensembl rs2151346848
- Uncertain significance
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.09
- MetaLR 0.22
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.42
- MutPred 0.57
- 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)