H67Y (p.His67Tyr) variant of LEP (Leptin)
H67Y (p.His67Tyr) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H67Y (p.His67Tyr) variant details
- p.His67Tyr
- gnomAD 7-128254458-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.14
- CADD 4.27
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available