P26S (p.Pro26Ser) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
P26S (p.Pro26Ser) 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 Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- rs2495786604
- ClinGen CA380341975
- ClinVar RCV003077405
- ClinVar RCV003533347
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.069
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)