G79D (p.Gly79Asp) variant of CREBBP (CREB-binding protein)
G79D (p.Gly79Asp) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G79D (p.Gly79Asp) variant details
- p.Gly79Asp
- gnomAD rs1200676852
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available