A26P (p.Ala26Pro) variant of EDN1 (Endothelin-1)
A26P (p.Ala26Pro) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A26P (p.Ala26Pro) variant details
- p.Ala26Pro
- gnomAD 6-12292352-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.35
- MetaLR 0.53
- MetaSVM -0.34
- CADD 18.30
- PolyPhen-2 0.86
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available