A3D (p.Ala3Asp) variant of FGFR3 (P22607)
A3D (p.Ala3Asp) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 4-1793942-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.33
- MetaLR 0.30
- MetaSVM -0.75
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available