V23A (p.Val23Ala) variant of EDN1 (Endothelin-1)
V23A (p.Val23Ala) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- gnomAD 6-12292344-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.11
- MetaLR 0.20
- MetaSVM -0.86
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available