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 0.66 / 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 0.656
- REVEL 0.72
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Myosin storage myopathy; not specified; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available