A15D (p.Ala15Asp) variant of FGFR3 (P22607)
A15D (p.Ala15Asp) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A15D (p.Ala15Asp) variant details
- p.Ala15Asp
- gnomAD 4-1793978-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.50
- MetaLR 0.21
- MetaSVM -0.84
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available