S50N (p.Ser50Asn) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S50N (p.Ser50Asn) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- rs2142869623
- ClinGen CA380341831
- ClinVar RCV001703350
- Ensembl rs2142869623
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- ESM-1b 1.00
- AlphaMissense 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available