R30M (p.Arg30Met) variant of PANK2 (Q9BZ23)
R30M (p.Arg30Met) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R30M (p.Arg30Met) variant details
- p.Arg30Met
- gnomAD 20-3889513-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.43
- ESM-1b 0.63
- AlphaMissense 0.32
- MetaLR 0.80
- MetaSVM 0.52
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available