L7V (p.Leu7Val) variant of APOL1 (Apolipoprotein L1)
L7V (p.Leu7Val) in APOL1 (Apolipoprotein L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- ESP rs372661836
- ExAC rs372661836
- TOPMed rs372661836
- gnomAD rs372661836
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.04
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available