G22* (p.Gly22Ter) variant of PANK2 (Q9BZ23)
G22* (p.Gly22Ter) in PANK2 (Q9BZ23) 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.
G22* (p.Gly22Ter) variant details
- p.Gly22Ter
- rs758064357
- gnomAD 20-3889473-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 45.00
- Population evidence available
- Structural context available
- Literature evidence available