V12M (p.Val12Met) variant of FGFR3 (P22607)
V12M (p.Val12Met) 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.
V12M (p.Val12Met) variant details
- p.Val12Met
- gnomAD 4-1793968-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.10
- MetaLR 0.21
- MetaSVM -0.82
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available