R58* (p.Arg58Ter) variant of MYL2 (P10916)
R58* (p.Arg58Ter) in MYL2 (P10916) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign in the context of in CMH10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R58* (p.Arg58Ter) variant details
- p.Arg58Ter
- rs756671869
- ClinGen CA040649
- NCI-TCGA Cosmic COSV5740
- NCI-TCGA Cosmic COSV9996
- Likely benign
- in CMH10
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.874
- CADD 41.00
- EBI: Likely benign (in CMH10)
- UniProt: Likely benign (in CMH10)
- Most common in the African/African-American population (allele frequency 2.4e-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)