V28G (p.Val28Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V28G (p.Val28Gly) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. 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.
V28G (p.Val28Gly) variant details
- p.Val28Gly
- gnomAD rs1388702628
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 23.40
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available