S184P (p.Ser184Pro) variant of EDNRB (Endothelin receptor type B)
S184P (p.Ser184Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
S184P (p.Ser184Pro) variant details
- p.Ser184Pro
- rs1555290659
- ClinGen CA388451447
- ClinVar RCV000659495
- Ensembl rs1555290659
- Likely pathogenic
- Waardenburg syndrome type 4A
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.99
- MetaLR 0.36
- MetaSVM -0.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Waardenburg syndrome type 4A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available