C16* (p.Cys16Ter) variant of SLC12A3 (P55017)
C16* (p.Cys16Ter) in SLC12A3 (P55017) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
C16* (p.Cys16Ter) variant details
- p.Cys16Ter
- gnomAD 16-56865283-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available