H47Q (p.His47Gln) variant of LEP (Leptin)
H47Q (p.His47Gln) in LEP (Leptin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H47Q (p.His47Gln) variant details
- p.His47Gln
- rs771590018
- gnomAD 7-128252158-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 17.60
- Population evidence available
- Structural context available
- Literature evidence available