P252R (p.Pro252Arg) variant of FGFR1 (P11362)
P252R (p.Pro252Arg) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jack. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P252R (p.Pro252Arg) variant details
- p.Pro252Arg
- rs121909627
- ClinGen CA280217
- ClinVar RCV000017669
- ClinVar RCV000017670
- Pathogenic
- Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jack
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.81
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or witho)
- EBI: Pathogenic (in PS and JWS)
- UniProt: Pathogenic (in PS and JWS)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. (PMID 10861678)
- Cited in: Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through… (PMID 14613973)