R34G (p.Arg34Gly) variant of APOA1 (Apolipoprotein A-I)
R34G (p.Arg34Gly) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- rs1373700967
- ClinGen CA382720987
- ClinVar RCV003325740
- ClinVar RCV006342937
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.26
- CADD 23.10
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Pathogenic (in Baltimore)
- UniProt: Pathogenic (in Baltimore)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available