T40N (p.Thr40Asn) variant of EDN1 (Endothelin-1)
T40N (p.Thr40Asn) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EDN1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T40N (p.Thr40Asn) variant details
- p.Thr40Asn
- 1000Genomes rs149399492
- ESP rs149399492
- ExAC rs149399492
- TOPMed rs149399492
- Uncertain significance
- EDN1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.19
- MetaLR 0.23
- MetaSVM -0.77
- CADD 9.48
- PolyPhen-2 0.02
- SIFT 0.26
- ClinVar: Uncertain significance (EDN1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available