V17A (p.Val17Ala) variant of FGFR3 (P22607)
V17A (p.Val17Ala) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- gnomAD 4-1793984-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.17
- MetaLR 0.20
- MetaSVM -0.95
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available