D48H (p.Asp48His) variant of MYL2 (P10916)
D48H (p.Asp48His) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D48H (p.Asp48His) variant details
- p.Asp48His
- rs727504405
- ClinGen CA386699294
- ClinVar RCV001185155
- TOPMed rs727504405
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.99
- MetaLR 0.48
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)