L19I (p.Leu19Ile) variant of PANK2 (Q9BZ23)
L19I (p.Leu19Ile) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L19I (p.Leu19Ile) variant details
- p.Leu19Ile
- gnomAD 20-3889155-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.72
- MetaSVM 0.11
- CADD 13.59
- Population evidence available
- Structural context available
- Literature evidence available