L7S (p.Leu7Ser) variant of APOL1 (Apolipoprotein L1)
L7S (p.Leu7Ser) in APOL1 (Apolipoprotein L1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L7S (p.Leu7Ser) variant details
- p.Leu7Ser
- rs2015814537
- gnomAD 22-36254968-GCTTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 18.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available