G49E (p.Gly49Glu) variant of CREBBP (CREB-binding protein)
G49E (p.Gly49Glu) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G49E (p.Gly49Glu) variant details
- p.Gly49Glu
- gnomAD rs1258345028
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.38
- CADD 24.20
- PolyPhen-2 0.69
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available