E62Q (p.Glu62Gln) variant of EDN1 (Endothelin-1)
E62Q (p.Glu62Gln) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
E62Q (p.Glu62Gln) variant details
- p.Glu62Gln
- rs1561693994
- ClinGen CA362856386
- ClinVar RCV000723296
- ClinVar RCV002535043
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.91
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available