E17* (p.Glu17Ter) variant of GNA11 (P29992)
E17* (p.Glu17Ter) in GNA11 (P29992) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- rs2512078200
- ClinGen CA403299488
- ClinVar RCV003011047
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.35
- MetaLR 0.70
- MetaSVM 0.28
- CADD 39.00
- PolyPhen-2 1.00
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available