F47L (p.Phe47Leu) variant of LEPR (Leptin receptor)
F47L (p.Phe47Leu) in LEPR (Leptin receptor) is a missense change. 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.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- ExAC rs765766605
- gnomAD rs765766605
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.10
- CADD 8.52
- PolyPhen-2 0.22
- SIFT 0.55
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available