I38V (p.Ile38Val) variant of LEP (Leptin)
I38V (p.Ile38Val) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I38V (p.Ile38Val) variant details
- p.Ile38Val
- gnomAD 7-128252130-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available