G72D (p.Gly72Asp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G72D (p.Gly72Asp) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G72D (p.Gly72Asp) variant details
- p.Gly72Asp
- rs1018066429
- Ensembl rs1018066429
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.03
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 16.40
- PolyPhen-2 0.13
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available