A20L (p.Ala20Leu) variant of FGFR3 (P22607)
A20L (p.Ala20Leu) in FGFR3 (P22607) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A20L (p.Ala20Leu) variant details
- p.Ala20Leu
- gnomAD 4-1793989-GGC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available