I285T (p.Ile285Thr) variant of MYH7 (Myosin-7)
I285T (p.Ile285Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
I285T (p.Ile285Thr) variant details
- p.Ile285Thr
- rs1555338574
- ClinGen CA389051898
- ClinVar RCV004017695
- Ensembl rs1555338574
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.02
- PolyPhen-2 0.20
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)