P48L (p.Pro48Leu) variant of EDNRB (Endothelin receptor type B)
P48L (p.Pro48Leu) 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 0.31 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- 1000Genomes rs538237989
- TOPMed rs538237989
- gnomAD rs538237989
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available