L17P (p.Leu17Pro) variant of EDNRB (Endothelin receptor type B)
L17P (p.Leu17Pro) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of found in patients with Waardenburg syndrome 2. The record also includes published literature and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- UniProt VAR 078312
- Pathogenic
- found in patients with Waardenburg syndrome 2
- Missense
- EBI: Pathogenic (found in patients with Waardenburg syndrome 2)
- UniProt: Pathogenic (found in patients with Waardenburg syndrome 2)
- Structural context available
- Cited in: EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. (PMID 28236341)