D76Y (p.Asp76Tyr) variant of LEP (Leptin)
D76Y (p.Asp76Tyr) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D76Y (p.Asp76Tyr) variant details
- p.Asp76Tyr
- TOPMed rs200915360
- gnomAD rs200915360
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.65
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available