V71L (p.Val71Leu) variant of EDNRB (Endothelin receptor type B)
V71L (p.Val71Leu) 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 0.17 / 1. The record also includes population frequency data and structural context.
V71L (p.Val71Leu) variant details
- p.Val71Leu
- rs2137639877
- ClinGen CA388452815
- ClinVar RCV001942796
- Ensembl rs2137639877
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 0.98
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available