Q17R (p.Gln17Arg) variant of APOA1 (Apolipoprotein A-I)
Q17R (p.Gln17Arg) in APOA1 (Apolipoprotein A-I) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q17R (p.Gln17Arg) variant details
- p.Gln17Arg
- gnomAD 11-116837151-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available