W45R (p.Trp45Arg) variant of EDN1 (Endothelin-1)
W45R (p.Trp45Arg) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
W45R (p.Trp45Arg) variant details
- p.Trp45Arg
- gnomAD rs1762708088
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.27
- MetaLR 0.32
- MetaSVM -0.73
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available