S18* (p.Ser18Ter) variant of PANK2 (Q9BZ23)
S18* (p.Ser18Ter) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S18* (p.Ser18Ter) variant details
- p.Ser18Ter
- gnomAD 20-3889153-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 20.90
- Population evidence available
- Structural context available
- Literature evidence available