L52H (p.Leu52His) variant of APOL1 (Apolipoprotein L1)
L52H (p.Leu52His) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
L52H (p.Leu52His) variant details
- p.Leu52His
- TOPMed rs2015919157
- gnomAD rs2015919157
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.06
- CADD 18.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available