G85E (p.Gly85Glu) variant of CREBBP (CREB-binding protein)
G85E (p.Gly85Glu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
G85E (p.Gly85Glu) variant details
- p.Gly85Glu
- rs2141495853
- ClinGen CA394561857
- ClinVar RCV001816170
- Ensembl rs2141495853
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- AlphaMissense 0.41
- MetaLR 0.64
- MetaSVM 0.26
- PolyPhen-2 0.27
- SIFT 0.00
- MutPred 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available