V17L (p.Val17Leu) variant of FGFR3 (P22607)
V17L (p.Val17Leu) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- gnomAD rs1387880288
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.10
- MetaLR 0.20
- MetaSVM -0.96
- CADD 9.14
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available