L27S (p.Leu27Ser) variant of PANK2 (Q9BZ23)
L27S (p.Leu27Ser) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L27S (p.Leu27Ser) variant details
- p.Leu27Ser
- rs764033238
- gnomAD 20-3889176-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 16.10
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available