D41N (p.Asp41Asn) variant of MYH7 (Myosin-7)
D41N (p.Asp41Asn) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs1157169154
- ClinGen CA389053839
- ClinVar RCV001036517
- ClinVar RCV001699501
- Uncertain significance
- Cardiomyopathy; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.91
- MetaSVM 1.04
- CADD 29.80
- ClinVar: Uncertain significance (Cardiomyopathy; not provided; Hypertrophic 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)