C19Y (p.Cys19Tyr) variant of FGFR1 (P11362)
C19Y (p.Cys19Tyr) in FGFR1 (P11362) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
C19Y (p.Cys19Tyr) variant details
- p.Cys19Tyr
- ExAC rs759243486
- TOPMed rs759243486
- gnomAD rs759243486
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 0.11
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available