L8S (p.Leu8Ser) variant of FGFR3 (P22607)
L8S (p.Leu8Ser) in FGFR3 (P22607) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L8S (p.Leu8Ser) variant details
- p.Leu8Ser
- gnomAD 4-1793953-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available