N34N (p.Asn34Asn) variant of EDN1 (Endothelin-1)
N34N (p.Asn34Asn) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
N34N (p.Asn34Asn) variant details
- p.Asn34Asn
- gnomAD 6-12292378-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0857
- CADD 0.72
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available