P47L (p.Pro47Leu) variant of APOL1 (Apolipoprotein L1)
P47L (p.Pro47Leu) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- gnomAD rs1181319554
- Missense
- Variant Prioritization Score for Impact Estimate 0.0797
- REVEL 0.09
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available