R34* (p.Arg34Ter) variant of APOA1 (Apolipoprotein A-I)
R34* (p.Arg34Ter) in APOA1 (Apolipoprotein A-I) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Baltimore. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- rs1373700967
- ClinGen CA382720980
- NCI-TCGA Cosmic COSV5263
- cosmic curated COSV52635
- Pathogenic
- in Baltimore
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 35.00
- EBI: Pathogenic (in Baltimore)
- UniProt: Pathogenic (in Baltimore)
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available