P68L (p.Pro68Leu) variant of EDNRB (Endothelin receptor type B)
P68L (p.Pro68Leu) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P68L (p.Pro68Leu) variant details
- p.Pro68Leu
- rs201737510
- ClinGen CA253049867
- ClinVar RCV000606747
- TOPMed rs201737510
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- AlphaMissense 0.08
- MetaLR 0.22
- MetaSVM -0.95
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available