A13D (p.Ala13Asp) variant of FGFR3 (P22607)
A13D (p.Ala13Asp) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- gnomAD 4-1793972-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.50
- MetaLR 0.27
- MetaSVM -0.75
- CADD 18.00
- PolyPhen-2 0.19
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available