V23I (p.Val23Ile) variant of EDN1 (Endothelin-1)
V23I (p.Val23Ile) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- TOPMed rs780775953
- gnomAD rs780775953
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.33
- MetaLR 0.48
- MetaSVM -0.24
- CADD 21.90
- PolyPhen-2 0.41
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available