G22D (p.Gly22Asp) variant of PANK2 (Q9BZ23)
G22D (p.Gly22Asp) 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.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- rs528149001
- gnomAD 20-3889480-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.84
- MetaSVM 0.75
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available