P9H (p.Pro9His) variant of PANK2 (Q9BZ23)
P9H (p.Pro9His) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P9H (p.Pro9His) variant details
- p.Pro9His
- rs1351574207
- gnomAD 20-3889123-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available