T47K (p.Thr47Lys) variant of EDNRB (Endothelin receptor type B)
T47K (p.Thr47Lys) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T47K (p.Thr47Lys) variant details
- p.Thr47Lys
- gnomAD rs1316261633
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.19
- Population evidence available
- Structural context available