N659S (p.Asn659Ser) variant of FGFR1 (P11362)
N659S (p.Asn659Ser) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar 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 0.61 / 1. The record also includes population frequency data and structural context.
N659S (p.Asn659Ser) variant details
- p.Asn659Ser
- TOPMed rs1337818472
- gnomAD rs1337818472
- Uncertain significance
- Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.57
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or witho)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available