P50H (p.Pro50His) variant of LEPR (Leptin receptor)
P50H (p.Pro50His) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P50H (p.Pro50His) variant details
- p.Pro50His
- gnomAD 1-65570581-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.21
- CADD 19.50
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available