L60V (p.Leu60Val) variant of LEP (Leptin)
L60V (p.Leu60Val) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L60V (p.Leu60Val) variant details
- p.Leu60Val
- gnomAD 7-128254437-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.59
- CADD 22.60
- PolyPhen-2 0.92
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available