G36W (p.Gly36Trp) variant of EDN1 (Endothelin-1)
G36W (p.Gly36Trp) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G36W (p.Gly36Trp) variant details
- p.Gly36Trp
- gnomAD 6-12292382-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.27
- CADD 24.10
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available