L19H (p.Leu19His) variant of PANK2 (Q9BZ23)
L19H (p.Leu19His) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L19H (p.Leu19His) variant details
- p.Leu19His
- gnomAD 20-3889156-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM 0.06
- CADD 9.10
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- Structural context available
- Literature evidence available