R25Q (p.Arg25Gln) variant of PANK2 (Q9BZ23)
R25Q (p.Arg25Gln) 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.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- rs546381069
- gnomAD 20-3889483-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.65
- MetaSVM -0.01
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available