S56W (p.Ser56Trp) variant of EDN1 (Endothelin-1)
S56W (p.Ser56Trp) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S56W (p.Ser56Trp) variant details
- p.Ser56Trp
- gnomAD rs573471977
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.56
- MetaLR 0.81
- MetaSVM 0.68
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available