L52F (p.Leu52Phe) variant of APOL1 (Apolipoprotein L1)
L52F (p.Leu52Phe) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- Ensembl rs2146298785
- Missense
- Variant Prioritization Score for Impact Estimate 0.098
- REVEL 0.04
- CADD 13.60
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available