P17L (p.Pro17Leu) variant of PANK2 (Q9BZ23)
P17L (p.Pro17Leu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- rs1291249355
- gnomAD 20-3889150-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.69
- MetaSVM 0.10
- CADD 19.89
- Population evidence available
- Structural context available
- Literature evidence available