A15D (p.Ala15Asp) variant of PANK2 (Q9BZ23)
A15D (p.Ala15Asp) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A15D (p.Ala15Asp) variant details
- p.Ala15Asp
- gnomAD 20-3889516-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.73
- MetaSVM -0.02
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available