T40S (p.Thr40Ser) variant of EDN1 (Endothelin-1)
T40S (p.Thr40Ser) 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 0.25 / 1. The record also includes population frequency data and structural context.
T40S (p.Thr40Ser) variant details
- p.Thr40Ser
- 1000Genomes rs149399492
- ESP rs149399492
- ExAC rs149399492
- TOPMed rs149399492
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.22
- MetaLR 0.10
- MetaSVM -1.06
- CADD 3.35
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available