V12A (p.Val12Ala) variant of FGFR3 (P22607)
V12A (p.Val12Ala) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- gnomAD 4-1793969-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.14
- MetaLR 0.22
- MetaSVM -0.94
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available