P82P (p.Pro82Pro) variant of EDN1 (Endothelin-1)
P82P (p.Pro82Pro) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P82P (p.Pro82Pro) variant details
- p.Pro82Pro
- rs376892399
- gnomAD 6-12293953-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0849
- CADD 0.60
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available