P84A (p.Pro84Ala) variant of CREBBP (CREB-binding protein)
P84A (p.Pro84Ala) 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 0.44 / 1. The record also includes population frequency data and structural context.
P84A (p.Pro84Ala) variant details
- p.Pro84Ala
- rs770952413
- ClinGen CA7870715
- ClinVar RCV003410609
- ExAC rs770952413
- Uncertain significance
- CREBBP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.27
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (CREBBP-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available