R25L (p.Arg25Leu) variant of PANK2 (Q9BZ23)
R25L (p.Arg25Leu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- rs910545691
- gnomAD 20-3889174-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.72
- MetaSVM 0.01
- CADD 4.77
- Population evidence available
- Structural context available
- Literature evidence available