V23V (p.Val23Val) variant of EDN1 (Endothelin-1)
V23V (p.Val23Val) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V23V (p.Val23Val) variant details
- p.Val23Val
- gnomAD 6-12292345-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 6.59
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available