F28I (p.Phe28Ile) variant of PANK2 (Q9BZ23)
F28I (p.Phe28Ile) 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.
F28I (p.Phe28Ile) variant details
- p.Phe28Ile
- gnomAD 20-3889182-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.68
- MetaSVM -0.12
- CADD 7.13
- Population evidence available
- Structural context available
- Literature evidence available