L8I (p.Leu8Ile) variant of FGFR3 (P22607)
L8I (p.Leu8Ile) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L8I (p.Leu8Ile) variant details
- p.Leu8Ile
- gnomAD 4-1793956-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.22
- MetaLR 0.27
- MetaSVM -0.83
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available