Q27R (p.Gln27Arg) variant of MYH7 (Myosin-7)
Q27R (p.Gln27Arg) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MYH7-related skeletal myopathy; Dilated cardiomyopathy 1S; Myopathy, myosin stor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- rs878853843
- ClinGen CA10583175
- ClinVar RCV000229274
- ClinVar RCV002417989
- Uncertain significance
- MYH7-related skeletal myopathy; Dilated cardiomyopathy 1S; Myopathy, myosin stor
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.54
- MetaSVM -0.04
- CADD 24.50
- ClinVar: Uncertain significance (MYH7-related skeletal myopathy; Dilated cardiomyopathy 1S; Myopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)