K55R (p.Lys55Arg) variant of LEPR (Leptin receptor)
K55R (p.Lys55Arg) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
K55R (p.Lys55Arg) variant details
- p.Lys55Arg
- gnomAD 1-65570596-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0975
- REVEL 0.04
- CADD 5.50
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available