R41L (p.Arg41Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R41L (p.Arg41Leu) 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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- rs764849803
- ClinGen CA380341886
- ClinVar RCV003150781
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.36
- CADD 22.90
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)