Y653C (p.Tyr653Cys) variant of FGFR1 (P11362)
Y653C (p.Tyr653Cys) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hartsfield-Bixler-Demyer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
Y653C (p.Tyr653Cys) variant details
- p.Tyr653Cys
- 1000Genomes rs577599441
- ExAC rs577599441
- TOPMed rs577599441
- gnomAD rs577599441
- Likely pathogenic
- Hartsfield-Bixler-Demyer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hartsfield-Bixler-Demyer syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available