W10R (p.Trp10Arg) variant of FGFR1 (P11362)
W10R (p.Trp10Arg) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
W10R (p.Trp10Arg) variant details
- p.Trp10Arg
- TOPMed rs1285368969
- gnomAD rs1285368969
- Uncertain significance
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.57
- CADD 27.00
- PolyPhen-2 0.20
- SIFT 0.06
- ClinVar: Uncertain significance (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available