L19V (p.Leu19Val) variant of PANK2 (Q9BZ23)
L19V (p.Leu19Val) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- rs778464738
- gnomAD 20-3889464-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.83
- MetaSVM 0.30
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available