S22A (p.Ser22Ala) variant of EDNRB (Endothelin receptor type B)
S22A (p.Ser22Ala) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S22A (p.Ser22Ala) variant details
- p.Ser22Ala
- gnomAD rs1382140942
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.97
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available