M1L (p.Met1Leu) variant of PANK2 (Q9BZ23)
M1L (p.Met1Leu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- gnomAD 20-3889470-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.73
- MetaSVM 0.34
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available