D91N (p.Asp91Asn) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
D91N (p.Asp91Asn) 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 Hypertrophic cardiomyopathy; Cardiovascular phenotype; Left ventricular noncompa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D91N (p.Asp91Asn) variant details
- p.Asp91Asn
- rs778851720
- ClinGen CA051307
- ClinVar RCV000823877
- ClinVar RCV001814243
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype; Left ventricular noncompa
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 26.60
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype; Left vent)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)