P1494S (p.Pro1494Ser) variant of CREBBP (CREB-binding protein)
P1494S (p.Pro1494Ser) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
P1494S (p.Pro1494Ser) variant details
- p.Pro1494Ser
- rs199817036
- ClinGen CA394563695
- ClinVar RCV001884465
- Ensembl rs199817036
- Pathogenic
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.70
- ClinVar: Pathogenic (Rubinstein-Taybi syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)