R34Q (p.Arg34Gln) variant of APOA1 (Apolipoprotein A-I)
R34Q (p.Arg34Gln) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- cosmic curated COSV52636
- ESP rs28929476
- ExAC rs28929476
- TOPMed rs28929476
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0772
- REVEL 0.02
- CADD 11.40
- PolyPhen-2 0.02
- SIFT 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in Baltimore)
- UniProt: Pathogenic (in Baltimore)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available