D3N (p.Asp3Asn) variant of MYH6 (Myosin-6)
D3N (p.Asp3Asn) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- rs371667049
- ClinGen CA7116277
- ClinVar RCV000618041
- ClinVar RCV001309340
- Uncertain significance
- Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomy
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.44
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hyper)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)