V88D (p.Val88Asp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V88D (p.Val88Asp) 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 Cardiovascular phenotype; Hypertrophic cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V88D (p.Val88Asp) variant details
- p.Val88Asp
- rs730880583
- ClinGen CA012782
- ClinVar RCV000158204
- ClinVar RCV001857563
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.66
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy; not provi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available