S56C (p.Ser56Cys) variant of CREBBP (CREB-binding protein)
S56C (p.Ser56Cys) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S56C (p.Ser56Cys) variant details
- p.Ser56Cys
- 1000Genomes rs201243744
- ESP rs201243744
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.36
- CADD 25.60
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available