L19P (p.Leu19Pro) variant of PANK2 (Q9BZ23)
L19P (p.Leu19Pro) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- rs752547236
- gnomAD 20-3889156-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.75
- MetaSVM 0.22
- CADD 10.43
- Population evidence available
- Structural context available
- Literature evidence available