R41C (p.Arg41Cys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R41C (p.Arg41Cys) 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 Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- rs373638535
- ClinGen CA009878
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99908
- Uncertain significance
- Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.43
- CADD 29.70
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Left ventricular noncompaction 10; Hyp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)