V9A (p.Val9Ala) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V9A (p.Val9Ala) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- rs1395620536
- ClinGen CA380342076
- ClinVar RCV001805418
- ClinVar RCV004009129
- Conflicting interpretations
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 21.10
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)