L23I (p.Leu23Ile) variant of PANK2 (Q9BZ23)
L23I (p.Leu23Ile) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L23I (p.Leu23Ile) variant details
- p.Leu23Ile
- gnomAD 20-3889167-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM -0.03
- CADD 6.64
- Population evidence available
- Structural context available
- Literature evidence available