G45R (p.Gly45Arg) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G45R (p.Gly45Arg) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- rs775837337
- ClinGen CA044401
- NCI-TCGA Cosmic COSV5702
- cosmic curated COSV57026
- Uncertain significance
- Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.11
- ESM-1b 0.48
- AlphaMissense 0.53
- CADD 11.10
- PolyPhen-2 0.30
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Left ventricular noncompaction 10; Hyp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)