L4M (p.Leu4Met) variant of PANK2 (Q9BZ23)
L4M (p.Leu4Met) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- rs2090073781
- gnomAD 20-3889440-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.69
- MetaSVM -0.02
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available