Y103C (p.Tyr103Cys) variant of MYH7 (Myosin-7)
Y103C (p.Tyr103Cys) 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 0.67 / 1. The record also includes structural context.
Y103C (p.Tyr103Cys) variant details
- p.Tyr103Cys
- rs2138685516
- ClinGen CA389053141
- ClinVar RCV002012399
- Ensembl rs2138685516
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.66
- MetaSVM 0.34
- CADD 24.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available