D75N (p.Asp75Asn) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
D75N (p.Asp75Asn) 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 not specified; Cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
D75N (p.Asp75Asn) variant details
- p.Asp75Asn
- rs375471260
- ClinGen CA011926
- ClinVar RCV000148688
- ClinVar RCV000154385
- Uncertain significance
- not specified; Cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- 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)