L8L (p.Leu8Leu) variant of FGFR3 (P22607)
L8L (p.Leu8Leu) in FGFR3 (P22607) is a synonymous 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.
L8L (p.Leu8Leu) variant details
- p.Leu8Leu
- gnomAD 4-1793958-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 10.80
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available
- Literature evidence available