L12L (p.Leu12Leu) variant of APOL1 (Apolipoprotein L1)
L12L (p.Leu12Leu) in APOL1 (Apolipoprotein L1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs781603527
- gnomAD 22-36253990-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0809
- CADD 0.29
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available