P77P (p.Pro77Pro) variant of EDN1 (Endothelin-1)
P77P (p.Pro77Pro) in EDN1 (Endothelin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P77P (p.Pro77Pro) variant details
- p.Pro77Pro
- rs755064642
- gnomAD 6-12292507-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 13.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available