K4R (p.Lys4Arg) variant of MYL2 (P10916)
K4R (p.Lys4Arg) in MYL2 (P10916) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- rs2136777488
- ClinGen CA386700362
- ClinVar RCV003532743
- Ensembl rs2136777488
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.34
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.56
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)