E28D (p.Glu28Asp) variant of MYL2 (P10916)
E28D (p.Glu28Asp) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- rs397516410
- ClinGen CA010541
- ClinVar RCV000036412
- ClinVar RCV003149629
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- AlphaMissense 0.96
- MetaLR 0.68
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.66
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)