A43T (p.Ala43Thr) variant of EDNRB (Endothelin receptor type B)
A43T (p.Ala43Thr) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- gnomAD rs200304077
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 0.63
- Population evidence available
- Structural context available