C63Y (p.Cys63Tyr) variant of EDN1 (Endothelin-1)
C63Y (p.Cys63Tyr) 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.
C63Y (p.Cys63Tyr) variant details
- p.Cys63Tyr
- rs1064796796
- ClinGen CA16618236
- ClinVar RCV000483261
- Ensembl rs1064796796
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available