T70N (p.Thr70Asn) variant of MYH7 (Myosin-7)
T70N (p.Thr70Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
T70N (p.Thr70Asn) variant details
- p.Thr70Asn
- rs1327007939
- ClinGen CA389053509
- ClinVar RCV000793519
- gnomAD rs1327007939
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.53
- ESM-1b 0.75
- AlphaMissense 0.15
- MetaLR 0.68
- MetaSVM 0.39
- CADD 24.50
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available