R25P (p.Arg25Pro) variant of PANK2 (Q9BZ23)
R25P (p.Arg25Pro) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R25P (p.Arg25Pro) variant details
- p.Arg25Pro
- gnomAD 20-3889171-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 19.40
- Population evidence available
- Structural context available
- Literature evidence available