A36T (p.Ala36Thr) variant of FGFR1 (P11362)
A36T (p.Ala36Thr) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.39 / 1. The record also includes published literature and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- rs2150966948
- ClinGen CA370736636
- ClinVar RCV001974287
- Ensembl rs2150966948
- Uncertain significance
- Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.63
- PolyPhen-2 0.26
- SIFT 0.70
- MutPred 0.33
- ClinVar: Uncertain significance (Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or witho)
- 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)