L4F (p.Leu4Phe) variant of PANK2 (Q9BZ23)
L4F (p.Leu4Phe) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- rs1361098976
- gnomAD 20-3889442-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.74
- MetaSVM 0.08
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available