A20G (p.Ala20Gly) variant of FGFR3 (P22607)
A20G (p.Ala20Gly) 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.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- gnomAD 4-1793993-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.15
- MetaLR 0.22
- MetaSVM -0.94
- CADD 7.08
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available
- Literature evidence available