G5W (p.Gly5Trp) variant of PANK2 (Q9BZ23)
G5W (p.Gly5Trp) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G5W (p.Gly5Trp) variant details
- p.Gly5Trp
- rs575187605
- gnomAD 20-3889434-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.86
- MetaSVM 0.92
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available