Q56R (p.Gln56Arg) variant of APOA1 (Apolipoprotein A-I)
Q56R (p.Gln56Arg) in APOA1 (Apolipoprotein A-I) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q56R (p.Gln56Arg) variant details
- p.Gln56Arg
- TOPMed rs1480675909
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.58
- CADD 24.50
- PolyPhen-2 0.83
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available