D11N (p.Asp11Asn) variant of MYL3 (Myosin light chain 3)
D11N (p.Asp11Asn) in MYL3 (Myosin light chain 3) 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.
D11N (p.Asp11Asn) variant details
- p.Asp11Asn
- rs1326582665
- ClinGen CA352499863
- ClinVar RCV003532751
- TOPMed rs1326582665
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.21
- AlphaMissense 0.15
- MetaLR 0.46
- MetaSVM -0.76
- CADD 21.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)