D51Y (p.Asp51Tyr) variant of MYL2 (P10916)
D51Y (p.Asp51Tyr) 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 0.52 / 1. The record also includes published literature and structural context.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- rs2071683858
- ClinGen CA386699239
- ClinVar RCV001181201
- Ensembl rs2071683858
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 0.88
- MetaLR 0.47
- MetaSVM 0.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.52
- ClinVar: Uncertain significance (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)