L4P (p.Leu4Pro) variant of PANK2 (Q9BZ23)
L4P (p.Leu4Pro) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD 20-3889444-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.80
- MetaSVM 0.59
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available