N75K (p.Asn75Lys) variant of EDN1 (Endothelin-1)
N75K (p.Asn75Lys) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
N75K (p.Asn75Lys) variant details
- p.Asn75Lys
- 1000Genomes rs565425223
- ExAC rs565425223
- gnomAD rs565425223
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.85
- MetaLR 0.87
- MetaSVM 0.96
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available