R54* (p.Arg54Ter) variant of CETP (P11597)
R54* (p.Arg54Ter) in CETP (P11597) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R54* (p.Arg54Ter) variant details
- p.Arg54Ter
- rs780627434
- ClinGen CA8070807
- cosmic curated COSV52364
- ClinVar RCV001780766
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 26.60
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: CETP-Related Hyperalphalipoproteinemia. (PMID 40339105)