Q77R (p.Gln77Arg) variant of LEP (Leptin)
Q77R (p.Gln77Arg) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q77R (p.Gln77Arg) variant details
- p.Gln77Arg
- gnomAD 7-128254489-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.51
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available