R35Q (p.Arg35Gln) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R35Q (p.Arg35Gln) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ventricular noncom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- rs397515885
- ClinGen CA009727
- ClinVar RCV000459433
- ClinVar RCV000766304
- Conflicting interpretations
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ventricular noncom
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.68
- ESM-1b 0.23
- AlphaMissense 0.13
- CADD 25.30
- PolyPhen-2 0.49
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ve)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)