R3L (p.Arg3Leu) variant of FTO (Q9C0B1)
R3L (p.Arg3Leu) in FTO (Q9C0B1) 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 0.49 / 1. The record also includes population frequency data and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- TOPMed rs1161946063
- gnomAD rs1161946063
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.32
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available