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 Hypertrophic cardiomyopathy; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 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
- Hypertrophic cardiomyopathy; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.56
- AlphaMissense 0.96
- MetaLR 0.92
- MetaSVM 1.06
- CADD 24.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)