S384Y (p.Ser384Tyr) variant of MYH7 (Myosin-7)
S384Y (p.Ser384Tyr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
S384Y (p.Ser384Tyr) variant details
- p.Ser384Tyr
- rs606231319
- ClinGen CA010290
- ClinVar RCV000148979
- Ensembl rs606231319
- Pathogenic
- Familial cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.89
- MetaLR 0.70
- MetaSVM 0.54
- PolyPhen-2 0.74
- SIFT 0.00
- EVE 0.33
- ClinVar: Pathogenic (Familial cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available