T215I (p.Thr215Ile) variant of MYH7 (Myosin-7)
T215I (p.Thr215Ile) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy; Myocarditis; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
T215I (p.Thr215Ile) variant details
- p.Thr215Ile
- rs1892948780
- ClinGen CA389052345
- ClinVar RCV001039334
- ClinVar RCV002067719
- Likely pathogenic
- Primary dilated cardiomyopathy; Myocarditis; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.88
- MetaLR 0.80
- MetaSVM 0.82
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.55
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy; Myocarditis; Hypertrophic cardio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)