R10* (p.Arg10Ter) variant of PANK2 (Q9BZ23)
R10* (p.Arg10Ter) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R10* (p.Arg10Ter) variant details
- p.Arg10Ter
- rs944348405
- gnomAD 20-3889455-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available