R34L (p.Arg34Leu) variant of APOA1 (Apolipoprotein A-I)
R34L (p.Arg34Leu) 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 Hypoalphalipoproteinemia, primary, 2, intermediate; Hypoalphalipoproteinemia, pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- rs28929476
- ClinGen CA127563
- ClinVar RCV000019513
- ClinVar RCV001508677
- Uncertain significance
- Hypoalphalipoproteinemia, primary, 2, intermediate; Hypoalphalipoproteinemia, pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.37
- CADD 18.10
- PolyPhen-2 0.24
- SIFT 0.01
- ClinVar: Uncertain significance (Hypoalphalipoproteinemia, primary, 2, intermediate; Hypoalphalip)
- EBI: Pathogenic (in Baltimore)
- UniProt: Pathogenic (in Baltimore)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Apolipoprotein A1 Baltimore (Arg10----Leu), a new ApoA1 variant. (PMID 2108924)