E14* (p.Glu14Ter) variant of GNA11 (P29992)
E14* (p.Glu14Ter) in GNA11 (P29992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E14* (p.Glu14Ter) variant details
- p.Glu14Ter
- gnomAD 19-3094691-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.659
- AlphaMissense 0.13
- MetaLR 0.52
- MetaSVM -0.27
- CADD 41.00
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available