T70I (p.Thr70Ile) variant of MYH7 (Myosin-7)
T70I (p.Thr70Ile) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
T70I (p.Thr70Ile) variant details
- p.Thr70Ile
- rs1327007939
- ClinGen CA389053511
- NCI-TCGA Cosmic COSV6251
- ClinVar RCV000691796
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.52
- ESM-1b 0.73
- AlphaMissense 0.11
- MetaLR 0.68
- MetaSVM 0.39
- CADD 24.50
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)