R27* (p.Arg27Ter) variant of CAV3 (Caveolin-3)
R27* (p.Arg27Ter) in CAV3 (Caveolin-3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HYPCK, RMD2 and MPDT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R27* (p.Arg27Ter) variant details
- p.Arg27Ter
- rs199476324
- ClinGen CA351661480
- ClinVar RCV001050053
- TOPMed rs199476324
- Pathogenic
- in HYPCK, RMD2 and MPDT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 0.98
- CADD 41.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in HYPCK, RMD2 and MPDT)
- UniProt: Pathogenic (in HYPCK, RMD2 and MPDT)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)