G100C (p.Gly100Cys) variant of CREBBP (CREB-binding protein)
G100C (p.Gly100Cys) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G100C (p.Gly100Cys) variant details
- p.Gly100Cys
- TOPMed rs1292732731
- gnomAD rs1292732731
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.54
- CADD 22.90
- PolyPhen-2 0.93
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available