R63H (p.Arg63His) variant of MYL3 (Myosin light chain 3)
R63H (p.Arg63His) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- rs139354105
- ClinGen CA043016
- cosmic curated COSV52767
- ClinVar RCV000770182
- Uncertain significance
- not specified; Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.67
- CADD 28.30
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-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)