S4* (p.Ser4Ter) variant of GALT (P07902)
S4* (p.Ser4Ter) in GALT (P07902) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S4* (p.Ser4Ter) variant details
- p.Ser4Ter
- gnomAD 9-34647219-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.05
- CADD 11.90
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available