Q55K (p.Gln55Lys) variant of LEP (Leptin)
Q55K (p.Gln55Lys) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q55K (p.Gln55Lys) variant details
- p.Gln55Lys
- ExAC rs759056593
- gnomAD rs759056593
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.38
- CADD 16.10
- PolyPhen-2 0.41
- SIFT 0.48
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available