A361P (p.Ala361Pro) variant of FGFR1 (P11362)
A361P (p.Ala361Pro) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
A361P (p.Ala361Pro) variant details
- p.Ala361Pro
- rs2150751821
- ClinGen CA370734067
- ClinVar RCV003781089
- Ensembl rs2150751821
- Likely pathogenic
- Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.12
- MetaLR 0.36
- MetaSVM -0.39
- PolyPhen-2 0.90
- SIFT 0.17
- MutPred 0.37
- ClinVar: Likely pathogenic (Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or witho)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)