S18L (p.Ser18Leu) variant of PANK2 (Q9BZ23)
S18L (p.Ser18Leu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- gnomAD 20-3889153-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.86
- MetaSVM 0.71
- CADD 21.10
- Population evidence available
- Structural context available
- Literature evidence available