G72S (p.Gly72Ser) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G72S (p.Gly72Ser) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G72S (p.Gly72Ser) variant details
- p.Gly72Ser
- gnomAD rs1327146767
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 7.76
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available