N75S (p.Asn75Ser) variant of EDN1 (Endothelin-1)
N75S (p.Asn75Ser) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
N75S (p.Asn75Ser) variant details
- p.Asn75Ser
- ExAC rs746943183
- gnomAD rs746943183
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.91
- MetaLR 0.88
- MetaSVM 0.98
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available