L12I (p.Leu12Ile) variant of LEP (Leptin)
L12I (p.Leu12Ile) in LEP (Leptin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- rs767150017
- NCI-TCGA Cosmic COSV5824
- ExAC rs767150017
- gnomAD rs767150017
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.26
- CADD 19.70
- PolyPhen-2 0.47
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available