Y79N (p.Tyr79Asn) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
Y79N (p.Tyr79Asn) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
Y79N (p.Tyr79Asn) variant details
- p.Tyr79Asn
- rs730880581
- ClinGen CA012128
- ClinVar RCV000158200
- Ensembl rs730880581
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available