D62N (p.Asp62Asn) variant of MYL3 (Myosin light chain 3)
D62N (p.Asp62Asn) 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 Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D62N (p.Asp62Asn) variant details
- p.Asp62Asn
- rs730880954
- ClinGen CA013607
- ClinVar RCV000158939
- ClinVar RCV000214205
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.81
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)