I71V (p.Ile71Val) variant of EDN1 (Endothelin-1)
I71V (p.Ile71Val) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
I71V (p.Ile71Val) variant details
- p.Ile71Val
- ExAC rs777792460
- gnomAD rs777792460
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.73
- MetaLR 0.82
- MetaSVM 0.80
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available