A14E (p.Ala14Glu) variant of PANK2 (Q9BZ23)
A14E (p.Ala14Glu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- gnomAD 20-3889141-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.75
- MetaSVM 0.21
- CADD 16.74
- Population evidence available
- Structural context available
- Literature evidence available