E14K (p.Glu14Lys) variant of LEPR (Leptin receptor)
E14K (p.Glu14Lys) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- gnomAD rs1653678733
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.12
- CADD 29.50
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available