Y46H (p.Tyr46His) variant of LEPR (Leptin receptor)
Y46H (p.Tyr46His) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
Y46H (p.Tyr46His) variant details
- p.Tyr46His
- cosmic curated COSV60752
- ExAC rs759874242
- TOPMed rs759874242
- gnomAD rs759874242
- Missense
- Variant Prioritization Score for Impact Estimate 0.095
- REVEL 0.11
- CADD 1.00
- PolyPhen-2 0.36
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available