P9L (p.Pro9Leu) variant of PANK2 (Q9BZ23)
P9L (p.Pro9Leu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs1356157885
- gnomAD 20-3889126-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.71
- MetaSVM 0.15
- CADD 16.73
- Population evidence available
- Structural context available
- Literature evidence available