Q20E (p.Gln20Glu) variant of LEP (Leptin)
Q20E (p.Gln20Glu) in LEP (Leptin) 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.
Q20E (p.Gln20Glu) variant details
- p.Gln20Glu
- ExAC rs200179130
- gnomAD rs200179130
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.09
- CADD 5.31
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available