V12L (p.Val12Leu) variant of FGFR3 (P22607)
V12L (p.Val12Leu) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- gnomAD 4-1793968-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- MetaLR 0.19
- MetaSVM -0.91
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available