V21G (p.Val21Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V21G (p.Val21Gly) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V21G (p.Val21Gly) variant details
- p.Val21Gly
- gnomAD rs1362750360
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.52
- ESM-1b 0.83
- AlphaMissense 0.45
- CADD 14.30
- PolyPhen-2 0.34
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available