K9R (p.Lys9Arg) variant of MYL3 (Myosin light chain 3)
K9R (p.Lys9Arg) 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 provided; Cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K9R (p.Lys9Arg) variant details
- p.Lys9Arg
- rs1025864971
- ClinGen CA16042505
- ClinVar RCV000414165
- ClinVar RCV000771980
- Uncertain significance
- not provided; Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.37
- CADD 26.00
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)