R25W (p.Arg25Trp) variant of PANK2 (Q9BZ23)
R25W (p.Arg25Trp) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- rs769849040
- gnomAD 20-3889482-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.73
- MetaSVM 0.15
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available