V21A (p.Val21Ala) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V21A (p.Val21Ala) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- rs1362750360
- ClinGen CA380342001
- ClinVar RCV001524616
- ClinVar RCV003748341
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 9.15
- PolyPhen-2 0.01
- SIFT 0.74
- ClinVar: Uncertain significance (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)