L12del (p.Leu12del) variant of PANK2 (Q9BZ23)
L12del (p.Leu12del) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L12del (p.Leu12del) variant details
- gnomAD 20-3889457-ACTG-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 20.80
- Population evidence available
- Structural context available
- Literature evidence available