L19I (p.Leu19Ile) variant of APOL1 (Apolipoprotein L1)
L19I (p.Leu19Ile) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L19I (p.Leu19Ile) variant details
- p.Leu19Ile
- gnomAD 22-36257093-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -0.92
- CADD 13.40
- PolyPhen-2 0.93
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available