S9F (p.Ser9Phe) variant of EDN1 (Endothelin-1)
S9F (p.Ser9Phe) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- gnomAD 6-12290655-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.82
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available