E69Q (p.Glu69Gln) variant of LEPR (Leptin receptor)
E69Q (p.Glu69Gln) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E69Q (p.Glu69Gln) variant details
- p.Glu69Gln
- gnomAD 1-65570637-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.12
- CADD 22.60
- PolyPhen-2 0.66
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available