H79Q (p.His79Gln) variant of EDN1 (Endothelin-1)
H79Q (p.His79Gln) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H79Q (p.His79Gln) variant details
- p.His79Gln
- gnomAD 6-12293944-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.27
- CADD 23.40
- PolyPhen-2 0.46
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available