R25A (p.Arg25Ala) variant of PANK2 (Q9BZ23)
R25A (p.Arg25Ala) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R25A (p.Arg25Ala) variant details
- p.Arg25Ala
- gnomAD 20-3889171-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 17.40
- Population evidence available
- Structural context available
- Literature evidence available