S80F (p.Ser80Phe) variant of EDNRB (Endothelin receptor type B)
S80F (p.Ser80Phe) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S80F (p.Ser80Phe) variant details
- p.Ser80Phe
- gnomAD rs1403988440
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 9.13
- PolyPhen-2 0.04
- SIFT 0.20
- Population evidence available
- Structural context available