V16L (p.Val16Leu) variant of EDNRB (Endothelin receptor type B)
V16L (p.Val16Leu) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V16L (p.Val16Leu) variant details
- p.Val16Leu
- 1000Genomes rs142767792
- ExAC rs142767792
- TOPMed rs142767792
- gnomAD rs142767792
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 6.67
- PolyPhen-2 0.00
- SIFT 0.81
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available