A30T (p.Ala30Thr) variant of EDN1 (Endothelin-1)
A30T (p.Ala30Thr) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD rs1479572510
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.17
- MetaLR 0.03
- MetaSVM -0.90
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available