A15E (p.Ala15Glu) variant of PANK2 (Q9BZ23)
A15E (p.Ala15Glu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A15E (p.Ala15Glu) variant details
- p.Ala15Glu
- gnomAD 20-3889144-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.68
- MetaSVM 0.01
- CADD 14.34
- Population evidence available
- Structural context available
- Literature evidence available