E72D (p.Glu72Asp) variant of MYL2 (P10916)
E72D (p.Glu72Asp) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E72D (p.Glu72Asp) variant details
- p.Glu72Asp
- rs376506450
- ClinGen CA386698762
- ClinVar RCV001189237
- ESP rs376506450
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.46
- CADD 14.50
- PolyPhen-2 0.31
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)