R37* (p.Arg37Ter) variant of LPA (Apolipoprotein(a))
R37* (p.Arg37Ter) in LPA (Apolipoprotein(a)) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R37* (p.Arg37Ter) variant details
- p.Arg37Ter
- rs121912503
- ClinGen CA123971
- NCI-TCGA Cosmic COSV6029
- ClinVar RCV000015535
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available
- Literature evidence available