S56R (p.Ser56Arg) variant of CREBBP (CREB-binding protein)
S56R (p.Ser56Arg) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S56R (p.Ser56Arg) variant details
- p.Ser56Arg
- Ensembl rs2141496553
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.45
- CADD 25.20
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available