L29V (p.Leu29Val) variant of PANK2 (Q9BZ23)
L29V (p.Leu29Val) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- rs755243523
- gnomAD 20-3889185-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM -0.05
- CADD 10.23
- Population evidence available
- Structural context available
- Literature evidence available