T99I (p.Thr99Ile) variant of EDNRB (Endothelin receptor type B)
T99I (p.Thr99Ile) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
T99I (p.Thr99Ile) variant details
- p.Thr99Ile
- Ensembl rs201575712
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.41
- Population evidence available
- Structural context available