T70S (p.Thr70Ser) variant of MYH7 (Myosin-7)
T70S (p.Thr70Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myosin storage myopathy; not specified; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
T70S (p.Thr70Ser) variant details
- p.Thr70Ser
- rs397516129
- ClinGen CA011657
- ClinVar RCV000035760
- ClinVar RCV002513359
- Uncertain significance
- Myosin storage myopathy; not specified; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.50
- MetaSVM -0.26
- CADD 23.80
- ClinVar: Uncertain significance (Myosin storage myopathy; not specified; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available