F7L (p.Phe7Leu) variant of PANK2 (Q9BZ23)
F7L (p.Phe7Leu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
F7L (p.Phe7Leu) variant details
- p.Phe7Leu
- rs1430366292
- gnomAD 20-3889121-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.51
- MetaSVM -0.38
- CADD 6.70
- Population evidence available
- Structural context available
- Literature evidence available