L58P (p.Leu58Pro) variant of EDN1 (Endothelin-1)
L58P (p.Leu58Pro) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L58P (p.Leu58Pro) variant details
- p.Leu58Pro
- gnomAD 6-12292449-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.82
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available