L48F (p.Leu48Phe) variant of LEPR (Leptin receptor)
L48F (p.Leu48Phe) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L48F (p.Leu48Phe) variant details
- p.Leu48Phe
- ExAC rs753075938
- TOPMed rs753075938
- gnomAD rs753075938
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.11
- CADD 8.02
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available