S24C (p.Ser24Cys) variant of FGFR3 (P22607)
S24C (p.Ser24Cys) 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.
S24C (p.Ser24Cys) variant details
- p.Ser24Cys
- gnomAD 4-1794005-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.21
- MetaLR 0.35
- MetaSVM -0.70
- CADD 18.60
- PolyPhen-2 0.04
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available