D1480G (p.Asp1480Gly) variant of CREBBP (CREB-binding protein)
D1480G (p.Asp1480Gly) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Rubinstein-Taybi syndrome due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
D1480G (p.Asp1480Gly) variant details
- p.Asp1480Gly
- rs886041286
- ClinGen CA10603272
- ClinVar RCV000334678
- ClinVar RCV000850544
- Pathogenic/Likely pathogenic
- not provided; Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (not provided; Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)