A11S (p.Ala11Ser) variant of EDNRB (Endothelin receptor type B)
A11S (p.Ala11Ser) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- TOPMed rs1879938838
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.03
- Population evidence available
- Structural context available