N56H (p.Asn56His) variant of LEPR (Leptin receptor)
N56H (p.Asn56His) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N56H (p.Asn56His) variant details
- p.Asn56His
- gnomAD 1-65570598-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.11
- CADD 18.30
- PolyPhen-2 0.96
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available