A13P (p.Ala13Pro) variant of FGFR3 (P22607)
A13P (p.Ala13Pro) in FGFR3 (P22607) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- gnomAD 4-1793969-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available