A18P (p.Ala18Pro) variant of FGFR3 (P22607)
A18P (p.Ala18Pro) in FGFR3 (P22607) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- gnomAD 4-1793984-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 19.90
- Population evidence available
- Structural context available
- Literature evidence available