N659D (p.Asn659Asp) variant of FGFR1 (P11362)
N659D (p.Asn659Asp) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar and UniProt describe it as 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 0.65 / 1. The record also includes population frequency data and structural context.
N659D (p.Asn659Asp) variant details
- p.Asn659Asp
- TOPMed rs1360444997
- gnomAD rs1360444997
- Pathogenic
- Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.67
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.19
- ClinVar: Pathogenic (Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or witho)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available