K55Q (p.Lys55Gln) variant of LEPR (Leptin receptor)
K55Q (p.Lys55Gln) in LEPR (Leptin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K55Q (p.Lys55Gln) variant details
- p.Lys55Gln
- gnomAD 1-65570588-A-ACT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 23.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available