R30G (p.Arg30Gly) variant of PANK2 (Q9BZ23)
R30G (p.Arg30Gly) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- gnomAD 20-3889510-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available