S25C (p.Ser25Cys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S25C (p.Ser25Cys) 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; not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S25C (p.Ser25Cys) variant details
- p.Ser25Cys
- rs749970304
- ClinGen CA056566
- ClinVar RCV000774401
- ClinVar RCV003133586
- Uncertain significance
- Cardiomyopathy; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.14
- ESM-1b 0.28
- AlphaMissense 0.29
- CADD 18.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy; not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)