L51F (p.Leu51Phe) variant of FTO (Q9C0B1)
L51F (p.Leu51Phe) 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 0.22 / 1. The record also includes population frequency data and structural context.
L51F (p.Leu51Phe) variant details
- p.Leu51Phe
- ESP rs371489995
- ExAC rs371489995
- TOPMed rs371489995
- gnomAD rs371489995
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.10
- CADD 17.10
- PolyPhen-2 0.09
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available