V19A (p.Val19Ala) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V19A (p.Val19Ala) 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 0.11 / 1. The record also includes population frequency data and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- rs1247917628
- ClinGen CA380342015
- ClinVar RCV001342408
- gnomAD rs1247917628
- Conflicting interpretations
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available