R69W (p.Arg69Trp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R69W (p.Arg69Trp) 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; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R69W (p.Arg69Trp) variant details
- p.Arg69Trp
- rs1173357672
- ClinGen CA380341719
- ClinVar RCV000628843
- TOPMed rs1173357672
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 24.00
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available