H12L (p.His12Leu) variant of PANK2 (Q9BZ23)
H12L (p.His12Leu) 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.
H12L (p.His12Leu) variant details
- p.His12Leu
- gnomAD 20-3889135-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM -0.05
- CADD 14.23
- Population evidence available
- Structural context available
- Literature evidence available