E27K (p.Glu27Lys) variant of EDN1 (Endothelin-1)
E27K (p.Glu27Lys) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- 1000Genomes rs553767245
- ExAC rs553767245
- TOPMed rs553767245
- gnomAD rs553767245
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.43
- MetaLR 0.38
- MetaSVM -0.29
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.05
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available