P84R (p.Pro84Arg) variant of CREBBP (CREB-binding protein)
P84R (p.Pro84Arg) 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 CREBBP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P84R (p.Pro84Arg) variant details
- p.Pro84Arg
- TOPMed rs1328043737
- gnomAD rs1328043737
- Uncertain significance
- CREBBP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.40
- CADD 22.50
- PolyPhen-2 0.32
- SIFT 0.20
- ClinVar: Uncertain significance (CREBBP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available