Y46C (p.Tyr46Cys) variant of LEPR (Leptin receptor)
Y46C (p.Tyr46Cys) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
Y46C (p.Tyr46Cys) variant details
- p.Tyr46Cys
- TOPMed rs1482124619
- gnomAD rs1482124619
- Missense
- Variant Prioritization Score for Impact Estimate 0.094
- REVEL 0.06
- CADD 10.40
- PolyPhen-2 0.53
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available