K55E (p.Lys55Glu) variant of LEPR (Leptin receptor)
K55E (p.Lys55Glu) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K55E (p.Lys55Glu) variant details
- p.Lys55Glu
- gnomAD 1-65570595-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.04
- CADD 5.96
- PolyPhen-2 0.08
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available