H2R (p.His2Arg) variant of LEP (Leptin)
H2R (p.His2Arg) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
H2R (p.His2Arg) variant details
- p.His2Arg
- gnomAD 7-128252023-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0576
- REVEL 0.04
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available