C7F (p.Cys7Phe) variant of LEPR (Leptin receptor)
C7F (p.Cys7Phe) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
C7F (p.Cys7Phe) variant details
- p.Cys7Phe
- gnomAD 1-65565585-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0602
- REVEL 0.06
- CADD 0.27
- PolyPhen-2 0.02
- SIFT 0.57
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available