T76N (p.Thr76Asn) variant of EDN1 (Endothelin-1)
T76N (p.Thr76Asn) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
T76N (p.Thr76Asn) variant details
- p.Thr76Asn
- ExAC rs776827646
- gnomAD rs776827646
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.83
- MetaLR 0.88
- MetaSVM 0.90
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available