A7D (p.Ala7Asp) variant of FGFR3 (P22607)
A7D (p.Ala7Asp) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A7D (p.Ala7Asp) variant details
- p.Ala7Asp
- gnomAD 4-1793954-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.22
- MetaLR 0.29
- MetaSVM -0.81
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available