S24P (p.Ser24Pro) variant of FGFR3 (P22607)
S24P (p.Ser24Pro) in FGFR3 (P22607) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S24P (p.Ser24Pro) variant details
- p.Ser24Pro
- TOPMed rs1316755192
- gnomAD rs1316755192
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.11
- MetaLR 0.21
- MetaSVM -0.96
- CADD 7.80
- PolyPhen-2 0.00
- SIFT 0.77
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available