A80S (p.Ala80Ser) variant of LEP (Leptin)
A80S (p.Ala80Ser) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A80S (p.Ala80Ser) variant details
- p.Ala80Ser
- ExAC rs756180416
- gnomAD rs756180416
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.39
- CADD 18.20
- PolyPhen-2 0.74
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available