A80V (p.Ala80Val) variant of LEP (Leptin)
A80V (p.Ala80Val) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A80V (p.Ala80Val) variant details
- p.Ala80Val
- ExAC rs780163329
- gnomAD rs780163329
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.19
- CADD 7.33
- PolyPhen-2 0.05
- SIFT 0.17
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available