P23L (p.Pro23Leu) variant of FGFR1 (P11362)
P23L (p.Pro23Leu) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs143341876
- ClinGen CA4718943
- cosmic curated COSV58345
- ClinVar RCV001161821
- Conflicting interpretations
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.54
- CADD 25.10
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Genetic basis of potential therapeutic strategies for craniosynostosis. (PMID 21082653)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)