P19A (p.Pro19Ala) variant of EDN1 (Endothelin-1)
P19A (p.Pro19Ala) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- gnomAD 6-12290684-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.22
- MetaLR 0.19
- MetaSVM -0.93
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available