P19T (p.Pro19Thr) variant of EDN1 (Endothelin-1)
P19T (p.Pro19Thr) 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.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- gnomAD 6-12290684-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.21
- MetaLR 0.26
- MetaSVM -0.83
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 0.34
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available