C11S (p.Cys11Ser) variant of FGFR3 (P22607)
C11S (p.Cys11Ser) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
C11S (p.Cys11Ser) variant details
- p.Cys11Ser
- TOPMed rs1720151246
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.22
- MetaLR 0.22
- MetaSVM -0.83
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available