P6L (p.Pro6Leu) variant of PANK2 (Q9BZ23)
P6L (p.Pro6Leu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs1644304107
- gnomAD 20-3889117-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.73
- MetaSVM 0.04
- CADD 8.57
- Population evidence available
- Structural context available
- Literature evidence available