V14A (p.Val14Ala) variant of FGFR3 (P22607)
V14A (p.Val14Ala) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- gnomAD 4-1793975-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.19
- MetaLR 0.21
- MetaSVM -0.89
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available