A14G (p.Ala14Gly) variant of EDNRB (Endothelin receptor type B)
A14G (p.Ala14Gly) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- 1000Genomes rs548023225
- TOPMed rs548023225
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 24.90
- PolyPhen-2 0.28
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available