G76E (p.Gly76Glu) variant of CREBBP (CREB-binding protein)
G76E (p.Gly76Glu) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G76E (p.Gly76Glu) variant details
- p.Gly76Glu
- gnomAD rs1258706330
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.56
- CADD 25.00
- PolyPhen-2 0.64
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available