p.Ala15dup variant of PANK2 (Q9BZ23)
p.Ala15dup in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala15dup variant details
- gnomAD 20-3889138-G-GGGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 20.70
- Population evidence available
- Structural context available
- Literature evidence available