E3D (p.Glu3Asp) variant of CREBBP (CREB-binding protein)
E3D (p.Glu3Asp) in CREBBP (CREB-binding protein) 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 0.28 / 1. The record also includes population frequency data and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.13
- CADD 19.40
- PolyPhen-2 0.22
- SIFT 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available