E24* (p.Glu24Ter) variant of GNA11 (P29992)
E24* (p.Glu24Ter) in GNA11 (P29992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E24* (p.Glu24Ter) variant details
- p.Glu24Ter
- gnomAD 19-3094721-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.654
- AlphaMissense 0.33
- MetaLR 0.58
- MetaSVM -0.15
- CADD 39.00
- PolyPhen-2 0.53
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available