P84S (p.Pro84Ser) variant of CREBBP (CREB-binding protein)
P84S (p.Pro84Ser) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P84S (p.Pro84Ser) variant details
- p.Pro84Ser
- ExAC rs770952413
- TOPMed rs770952413
- gnomAD rs770952413
- Uncertain significance
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.26
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.62
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available