T40I (p.Thr40Ile) variant of EDN1 (Endothelin-1)
T40I (p.Thr40Ile) in EDN1 (Endothelin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- 1000Genomes rs149399492
- ESP rs149399492
- ExAC rs149399492
- TOPMed rs149399492
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.17
- MetaLR 0.24
- MetaSVM -0.73
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available