A26T (p.Ala26Thr) variant of EDN1 (Endothelin-1)
A26T (p.Ala26Thr) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs1367007262
- NCI-TCGA Cosmic COSV1010
- TOPMed rs1367007262
- gnomAD rs1367007262
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.07
- MetaLR 0.18
- MetaSVM -0.93
- CADD 11.40
- PolyPhen-2 0.02
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available