V18L (p.Val18Leu) variant of LEPR (Leptin receptor)
V18L (p.Val18Leu) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- 1000Genomes rs754188832
- ExAC rs754188832
- TOPMed rs754188832
- gnomAD rs754188832
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.04
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available