Q48Q (p.Gln48Gln) variant of APOL1 (Apolipoprotein L1)
Q48Q (p.Gln48Gln) in APOL1 (Apolipoprotein L1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Q48Q (p.Gln48Gln) variant details
- p.Gln48Gln
- rs2146298770
- gnomAD 22-36257364-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0951
- CADD 2.04
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available