N75Y (p.Asn75Tyr) variant of EDN1 (Endothelin-1)
N75Y (p.Asn75Tyr) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
N75Y (p.Asn75Tyr) variant details
- p.Asn75Tyr
- TOPMed rs912386275
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.97
- MetaLR 0.88
- MetaSVM 0.98
- CADD 32.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available