D48E (p.Asp48Glu) variant of MYL2 (P10916)
D48E (p.Asp48Glu) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
D48E (p.Asp48Glu) variant details
- p.Asp48Glu
- rs2136774026
- ClinGen CA386699282
- ClinVar RCV001804502
- ClinVar RCV002388674
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- AlphaMissense 0.99
- MetaLR 0.09
- MetaSVM -1.08
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.63
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy)
- 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)