L4I (p.Leu4Ile) variant of PANK2 (Q9BZ23)
L4I (p.Leu4Ile) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- gnomAD 20-3889443-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.70
- MetaSVM 0.00
- CADD 19.68
- Population evidence available
- Structural context available
- Literature evidence available