G57D (p.Gly57Asp) variant of EDNRB (Endothelin receptor type B)
G57D (p.Gly57Asp) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- cosmic curated COSV10522
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 8.99
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance (probable risk factor for Hirschsprung disease)
- Population evidence available
- Structural context available