S18* (p.Ser18Ter) variant of SLC18A2 (Q05940)
S18* (p.Ser18Ter) in SLC18A2 (Q05940) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S18* (p.Ser18Ter) variant details
- p.Ser18Ter
- gnomAD 10-117241746-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available