K54R (p.Lys54Arg) variant of LEP (Leptin)
K54R (p.Lys54Arg) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
K54R (p.Lys54Arg) variant details
- p.Lys54Arg
- gnomAD 7-128254420-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.17
- CADD 6.34
- PolyPhen-2 0.04
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available