V51P (p.Val51Pro) variant of LEP (Leptin)
V51P (p.Val51Pro) in LEP (Leptin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V51P (p.Val51Pro) variant details
- p.Val51Pro
- gnomAD 7-128254403-GCAGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 33.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available