P55R (p.Pro55Arg) variant of EDNRB (Endothelin receptor type B)
P55R (p.Pro55Arg) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P55R (p.Pro55Arg) variant details
- p.Pro55Arg
- ExAC rs751161032
- gnomAD rs751161032
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.40
- Population evidence available
- Structural context available