L19M (p.Leu19Met) variant of PANK2 (Q9BZ23)
L19M (p.Leu19Met) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- gnomAD 20-3889464-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.86
- MetaSVM 0.39
- CADD 22.80
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available