V81L (p.Val81Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V81L (p.Val81Leu) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V81L (p.Val81Leu) variant details
- p.Val81Leu
- rs999833111
- ClinGen CA380341630
- ClinVar RCV001884173
- TOPMed rs999833111
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.46
- CADD 23.10
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available