G19A (p.Gly19Ala) variant of FGFR3 (P22607)
G19A (p.Gly19Ala) in FGFR3 (P22607) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- gnomAD 4-1793986-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available