G22A (p.Gly22Ala) variant of PANK2 (Q9BZ23)
G22A (p.Gly22Ala) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- gnomAD 20-3889471-TGGGAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available