Q29R (p.Gln29Arg) variant of APOA1 (Apolipoprotein A-I)
Q29R (p.Gln29Arg) in APOA1 (Apolipoprotein A-I) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q29R (p.Gln29Arg) variant details
- p.Gln29Arg
- rs753348565
- gnomAD 11-116837115-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 20.20
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available