D75N (p.Asp75Asn) variant of EDNRB (Endothelin receptor type B)
D75N (p.Asp75Asn) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D75N (p.Asp75Asn) variant details
- p.Asp75Asn
- rs1230438816
- gnomAD rs1230438816
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.08
- MetaLR 0.12
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.44
- MutPred 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available