I201T (p.Ile201Thr) variant of MYH7 (Myosin-7)
I201T (p.Ile201Thr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of MYH7-related disorder; Primary familial dilated cardiomyopathy; Dilated cardiomy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I201T (p.Ile201Thr) variant details
- p.Ile201Thr
- rs397516258
- ClinGen CA016526
- ClinVar RCV000035988
- ClinVar RCV000158747
- Pathogenic/Likely pathogenic
- MYH7-related disorder; Primary familial dilated cardiomyopathy; Dilated cardiomy
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.53
- CADD 18.20
- PolyPhen-2 0.06
- SIFT 0.98
- ClinVar: Pathogenic/Likely pathogenic (MYH7-related disorder; Primary familial dilated cardiomyopathy;)
- EBI: Pathogenic (in CMD1S)
- UniProt: Pathogenic (in CMD1S)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PMID 15769782)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)