K34Q (p.Lys34Gln) variant of LEPR (Leptin receptor)
K34Q (p.Lys34Gln) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K34Q (p.Lys34Gln) variant details
- p.Lys34Gln
- TOPMed rs1654082320
- gnomAD rs1654082320
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.06
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available