L4V (p.Leu4Val) variant of PANK2 (Q9BZ23)
L4V (p.Leu4Val) 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.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- gnomAD 20-3889443-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.72
- MetaSVM 0.05
- CADD 19.24
- Most common in the Middle Eastern population (allele frequency 0.00036)
- Structural context available
- Literature evidence available