Q55E (p.Gln55Glu) variant of LEP (Leptin)
Q55E (p.Gln55Glu) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q55E (p.Gln55Glu) variant details
- p.Gln55Glu
- ExAC rs759056593
- gnomAD rs759056593
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.34
- CADD 15.80
- PolyPhen-2 0.31
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available