W666R (p.Trp666Arg) variant of FGFR1 (P11362)
W666R (p.Trp666Arg) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hartsfield-Bixler-Demyer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
W666R (p.Trp666Arg) variant details
- p.Trp666Arg
- rs1563433902
- ClinGen CA370729730
- ClinVar RCV000030925
- UniProt VAR 017890
- Pathogenic
- Hartsfield-Bixler-Demyer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.93
- CADD 32.00
- ClinVar: Pathogenic (Hartsfield-Bixler-Demyer syndrome)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Population evidence available
- Structural context available
- Cited in: Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (PMID 12627230)
- Cited in: Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1… (PMID 15001591)