E62K (p.Glu62Lys) variant of EDN1 (Endothelin-1)
E62K (p.Glu62Lys) in EDN1 (Endothelin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- gnomAD 6-12292456-T-TAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available