T40A (p.Thr40Ala) variant of EDN1 (Endothelin-1)
T40A (p.Thr40Ala) 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.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- TOPMed rs1490793727
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -0.95
- CADD 1.18
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available