T21T (p.Thr21Thr) variant of EDN1 (Endothelin-1)
T21T (p.Thr21Thr) in EDN1 (Endothelin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T21T (p.Thr21Thr) variant details
- p.Thr21Thr
- rs776204382
- gnomAD 6-12290692-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 24.70
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available