F28L (p.Phe28Leu) variant of PANK2 (Q9BZ23)
F28L (p.Phe28Leu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
F28L (p.Phe28Leu) variant details
- p.Phe28Leu
- rs1460104819
- gnomAD 20-3889182-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.59
- MetaSVM -0.29
- CADD 7.16
- Population evidence available
- Structural context available
- Literature evidence available