L25F (p.Leu25Phe) variant of FGFR3 (P22607)
L25F (p.Leu25Phe) in FGFR3 (P22607) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- ExAC rs762402180
- TOPMed rs762402180
- gnomAD rs762402180
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.26
- MetaLR 0.30
- MetaSVM -0.73
- CADD 2.74
- PolyPhen-2 0.02
- SIFT 0.18
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available