L27L (p.Leu27Leu) variant of PANK2 (Q9BZ23)
L27L (p.Leu27Leu) in PANK2 (Q9BZ23) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L27L (p.Leu27Leu) variant details
- p.Leu27Leu
- rs2090065892
- gnomAD 20-3889181-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 3.28
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available