V18M (p.Val18Met) variant of LEPR (Leptin receptor)
V18M (p.Val18Met) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V18M (p.Val18Met) variant details
- p.Val18Met
- 1000Genomes rs754188832
- ExAC rs754188832
- TOPMed rs754188832
- gnomAD rs754188832
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.03
- CADD 9.72
- PolyPhen-2 0.03
- SIFT 0.74
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available