A36S (p.Ala36Ser) variant of EDNRB (Endothelin receptor type B)
A36S (p.Ala36Ser) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- gnomAD rs1354646550
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 8.87
- PolyPhen-2 0.02
- SIFT 0.44
- Population evidence available
- Structural context available