W13L (p.Trp13Leu) variant of PANK2 (Q9BZ23)
W13L (p.Trp13Leu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
W13L (p.Trp13Leu) variant details
- p.Trp13Leu
- gnomAD 20-3889138-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.69
- MetaSVM 0.05
- CADD 19.11
- Population evidence available
- Structural context available
- Literature evidence available