D32N (p.Asp32Asn) variant of MYH7 (Myosin-7)
D32N (p.Asp32Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D32N (p.Asp32Asn) variant details
- p.Asp32Asn
- rs2138686791
- ClinGen CA389053938
- ClinVar RCV001524308
- Ensembl rs2138686791
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.42
- MetaLR 0.61
- MetaSVM 0.21
- CADD 26.40
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-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)