D7E (p.Asp7Glu) variant of CREBBP (CREB-binding protein)
D7E (p.Asp7Glu) in CREBBP (CREB-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D7E (p.Asp7Glu) variant details
- p.Asp7Glu
- ESP rs375531370
- ExAC rs375531370
- TOPMed rs375531370
- gnomAD rs375531370
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.28
- CADD 23.50
- PolyPhen-2 0.46
- SIFT 0.47
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available