L19L (p.Leu19Leu) variant of PANK2 (Q9BZ23)
L19L (p.Leu19Leu) in PANK2 (Q9BZ23) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- rs1258943762
- gnomAD 20-3889157-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 6.79
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available