R23H (p.Arg23His) variant of MYH6 (Myosin-6)
R23H (p.Arg23His) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R23H (p.Arg23His) variant details
- p.Arg23His
- rs771786844
- ClinGen CA7116274
- ClinVar RCV000647076
- ClinVar RCV000770462
- Uncertain significance
- not provided; Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.70
- CADD 26.50
- PolyPhen-2 0.77
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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: Dilated Cardiomyopathy Overview. (PMID 20301486)