S47N (p.Ser47Asn) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S47N (p.Ser47Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S47N (p.Ser47Asn) variant details
- p.Ser47Asn
- rs1565631851
- ClinGen CA380341851
- ClinVar RCV001301504
- ClinVar RCV004651551
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 10.60
- PolyPhen-2 0.45
- SIFT 0.16
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available