G14* (p.Gly14Ter) variant of SLC12A2 (P55011)
G14* (p.Gly14Ter) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G14* (p.Gly14Ter) variant details
- p.Gly14Ter
- gnomAD 5-128083994-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 27.40
- Population evidence available
- Structural context available
- Literature evidence available