R30K (p.Arg30Lys) variant of PANK2 (Q9BZ23)
R30K (p.Arg30Lys) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R30K (p.Arg30Lys) variant details
- p.Arg30Lys
- gnomAD 20-3889513-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.69
- MetaSVM -0.32
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available