G100S (p.Gly100Ser) variant of CREBBP (CREB-binding protein)
G100S (p.Gly100Ser) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G100S (p.Gly100Ser) variant details
- p.Gly100Ser
- TOPMed rs1292732731
- gnomAD rs1292732731
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.23
- CADD 15.20
- PolyPhen-2 0.15
- SIFT 0.79
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available