G19C (p.Gly19Cys) variant of FGFR3 (P22607)
G19C (p.Gly19Cys) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G19C (p.Gly19Cys) variant details
- p.Gly19Cys
- gnomAD 4-1793989-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.27
- MetaLR 0.18
- MetaSVM -0.89
- CADD 17.00
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available