L29F (p.Leu29Phe) variant of PANK2 (Q9BZ23)
L29F (p.Leu29Phe) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L29F (p.Leu29Phe) variant details
- p.Leu29Phe
- rs755243523
- gnomAD 20-3889185-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.72
- MetaSVM 0.06
- CADD 11.24
- Population evidence available
- Structural context available
- Literature evidence available