I114N (p.Ile114Asn) variant of MYH7 (Myosin-7)
I114N (p.Ile114Asn) 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 0.89 / 1. The record also includes structural context.
I114N (p.Ile114Asn) variant details
- p.Ile114Asn
- rs730880833
- ClinGen CA389053036
- ClinVar RCV000703364
- ExAC rs730880833
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.02
- CADD 27.50
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available