L4L (p.Leu4Leu) variant of PANK2 (Q9BZ23)
L4L (p.Leu4Leu) in PANK2 (Q9BZ23) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- gnomAD 20-3889112-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.46
- Population evidence available
- Structural context available
- Literature evidence available