L27P (p.Leu27Pro) variant of PANK2 (Q9BZ23)
L27P (p.Leu27Pro) in PANK2 (Q9BZ23) is a protein-truncating 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.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 20-3889175-CCTTCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 17.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available