P50L (p.Pro50Leu) variant of LEPR (Leptin receptor)
P50L (p.Pro50Leu) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- gnomAD 1-65570581-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.12
- CADD 15.40
- PolyPhen-2 0.26
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available