C7Y (p.Cys7Tyr) variant of LEPR (Leptin receptor)
C7Y (p.Cys7Tyr) 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 and structural context.
C7Y (p.Cys7Tyr) variant details
- p.Cys7Tyr
- ExAC rs754290111
- TOPMed rs754290111
- gnomAD rs754290111
- Missense
- Variant Prioritization Score for Impact Estimate 0.0599
- REVEL 0.05
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available