V8M (p.Val8Met) variant of LEPR (Leptin receptor)
V8M (p.Val8Met) 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, published literature, and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- gnomAD 1-65565587-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.04
- CADD 19.80
- PolyPhen-2 0.15
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available