K62* (p.Lys62Ter) variant of MYL2 (P10916)
K62* (p.Lys62Ter) in MYL2 (P10916) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K62* (p.Lys62Ter) variant details
- p.Lys62Ter
- rs201728041
- ClinGen CA009930
- ClinVar RCV000198198
- ClinVar RCV000766353
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 40.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)