L10V (p.Leu10Val) variant of FGFR3 (P22607)
L10V (p.Leu10Val) 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 0.13 / 1. The record also includes population frequency data and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- TOPMed rs918934226
- gnomAD rs918934226
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.09
- MetaLR 0.24
- MetaSVM -0.89
- CADD 7.07
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available