W42R (p.Trp42Arg) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
W42R (p.Trp42Arg) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
W42R (p.Trp42Arg) variant details
- p.Trp42Arg
- rs1335468052
- ClinGen CA380341884
- ClinVar RCV001772386
- ClinVar RCV002538807
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available