Q12R (p.Gln12Arg) variant of CAV3 (Caveolin-3)
Q12R (p.Gln12Arg) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 9; Hypertrophic cardiomyopathy 1; Distal myopathy, Tateyama typ. 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.
Q12R (p.Gln12Arg) variant details
- p.Gln12Arg
- rs1707652057
- ClinGen CA351661289
- ClinVar RCV001326057
- ClinVar RCV002504511
- Uncertain significance
- Long QT syndrome 9; Hypertrophic cardiomyopathy 1; Distal myopathy, Tateyama typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.36
- MetaSVM -0.61
- CADD 20.50
- ClinVar: Uncertain significance (Long QT syndrome 9; Hypertrophic cardiomyopathy 1; Distal myopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)