A5D (p.Ala5Asp) variant of FGFR3 (P22607)
A5D (p.Ala5Asp) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A5D (p.Ala5Asp) variant details
- p.Ala5Asp
- gnomAD 4-1793948-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.41
- MetaLR 0.32
- MetaSVM -0.56
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available