D85N (p.Asp85Asn) variant of MYH7 (Myosin-7)
D85N (p.Asp85Asn) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D85N (p.Asp85Asn) variant details
- p.Asp85Asn
- rs770246266
- ClinGen CA389053349
- ClinVar RCV000806821
- ClinVar RCV001183898
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.83
- MetaSVM 0.75
- CADD 27.00
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)