A144V (p.Ala144Val) variant of EDNRB (Endothelin receptor type B)
A144V (p.Ala144Val) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Waardenburg syndrome type 4A. The record also includes structural context.
A144V (p.Ala144Val) variant details
- p.Ala144Val
- TOPMed rs1879905079
- Likely pathogenic
- Waardenburg syndrome type 4A
- Missense
- ClinVar: Likely pathogenic (Waardenburg syndrome type 4A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available