W54C (p.Trp54Cys) variant of EDNRB (Endothelin receptor type B)
W54C (p.Trp54Cys) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
W54C (p.Trp54Cys) variant details
- p.Trp54Cys
- Ensembl rs1879928418
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 23.00
- PolyPhen-2 0.43
- SIFT 0.07
- Population evidence available
- Structural context available