L13P (p.Leu13Pro) variant of FGFR1 (P11362)
L13P (p.Leu13Pro) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs764533580
- ClinGen CA4718951
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- Uncertain significance
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- CADD 3.27
- ClinVar: Uncertain significance (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)