G22E (p.Gly22Glu) variant of PANK2 (Q9BZ23)
G22E (p.Gly22Glu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- gnomAD 20-3889165-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.68
- MetaSVM -0.07
- CADD 0.80
- Population evidence available
- Structural context available
- Literature evidence available