R25C (p.Arg25Cys) variant of PANK2 (Q9BZ23)
R25C (p.Arg25Cys) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- rs1441273132
- gnomAD 20-3889173-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.81
- MetaSVM 0.18
- CADD 9.62
- Population evidence available
- Structural context available
- Literature evidence available