R27Q (p.Arg27Gln) variant of CAV3 (Caveolin-3)
R27Q (p.Arg27Gln) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rippling muscle disease 2; Elevated circulating creatine kinase activity; Long Q. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- rs116840778
- ClinGen CA119434
- ClinVar RCV000008777
- ClinVar RCV000008778
- Pathogenic
- Rippling muscle disease 2; Elevated circulating creatine kinase activity; Long Q
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- CADD 32.00
- ClinVar: Pathogenic (Rippling muscle disease 2; Elevated circulating creatine kinase)
- EBI: Pathogenic (in HYPCK, RMD2 and MPDT)
- UniProt: Pathogenic (in HYPCK, RMD2 and MPDT)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Phenotypic variability in rippling muscle disease. (PMID 10227634)
- Cited in: Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. (PMID 10746614)