S54P (p.Ser54Pro) variant of EDN1 (Endothelin-1)
S54P (p.Ser54Pro) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
S54P (p.Ser54Pro) variant details
- p.Ser54Pro
- gnomAD rs1284924294
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.93
- MetaLR 0.90
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available