D45E (p.Asp45Glu) variant of MYL2 (P10916)
D45E (p.Asp45Glu) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy 10. 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.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- rs199474807
- ClinGen CA386699338
- ClinVar RCV002013213
- ClinVar RCV003533091
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.36
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy 10)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-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)