D76V (p.Asp76Val) variant of LEP (Leptin)
D76V (p.Asp76Val) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D76V (p.Asp76Val) variant details
- p.Asp76Val
- gnomAD rs1332916395
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.65
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available