K67R (p.Lys67Arg) variant of MYH7 (Myosin-7)
K67R (p.Lys67Arg) 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. 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.
K67R (p.Lys67Arg) variant details
- p.Lys67Arg
- rs2138686446
- ClinGen CA389053578
- ClinVar RCV004010101
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.41
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)