R25H (p.Arg25His) variant of PANK2 (Q9BZ23)
R25H (p.Arg25His) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R25H (p.Arg25His) variant details
- p.Arg25His
- gnomAD 20-3889174-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.72
- MetaSVM 0.01
- CADD 6.87
- Population evidence available
- Structural context available
- Literature evidence available