D30N (p.Asp30Asn) variant of LEP (Leptin)
D30N (p.Asp30Asn) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- gnomAD 7-128252106-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.57
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available