K14R (p.Lys14Arg) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
K14R (p.Lys14Arg) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K14R (p.Lys14Arg) variant details
- p.Lys14Arg
- rs779049126
- ClinGen CA055355
- ClinVar RCV000481305
- ClinVar RCV000629011
- Uncertain significance
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 24.50
- PolyPhen-2 0.17
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)