L19H (p.Leu19His) variant of APOL1 (Apolipoprotein L1)
L19H (p.Leu19His) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L19H (p.Leu19His) variant details
- p.Leu19His
- ExAC rs750385777
- gnomAD rs750385777
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.16
- CADD 14.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available