L4* (p.Leu4Ter) variant of PANK2 (Q9BZ23)
L4* (p.Leu4Ter) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L4* (p.Leu4Ter) variant details
- p.Leu4Ter
- gnomAD 20-3889441-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available