F28S (p.Phe28Ser) variant of PANK2 (Q9BZ23)
F28S (p.Phe28Ser) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
F28S (p.Phe28Ser) variant details
- p.Phe28Ser
- gnomAD 20-3889181-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available