D2Y (p.Asp2Tyr) variant of EDN1 (Endothelin-1)
D2Y (p.Asp2Tyr) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- ExAC rs201943749
- TOPMed rs201943749
- gnomAD rs201943749
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.62
- MetaLR 0.73
- MetaSVM 0.64
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available