R23Q (p.Arg23Gln) variant of MYH7 (Myosin-7)
R23Q (p.Arg23Gln) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Myopathy, myosin storage, autosomal recessive; Congenital myopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- rs1169518192
- ClinGen CA389054029
- ClinVar RCV001920341
- ClinVar RCV002490261
- Uncertain significance
- Cardiomyopathy; Myopathy, myosin storage, autosomal recessive; Congenital myopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.51
- ESM-1b 0.82
- AlphaMissense 0.39
- MetaLR 0.67
- MetaSVM 0.39
- CADD 33.00
- ClinVar: Uncertain significance (Cardiomyopathy; Myopathy, myosin storage, autosomal recessive; C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)