T21K (p.Thr21Lys) variant of EDN1 (Endothelin-1)
T21K (p.Thr21Lys) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T21K (p.Thr21Lys) variant details
- p.Thr21Lys
- Ensembl rs867359218
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.50
- MetaLR 0.59
- MetaSVM 0.22
- CADD 32.00
- PolyPhen-2 0.54
- SIFT 0.02
- Population evidence available
- Structural context available