Y1503C (p.Tyr1503Cys) variant of CREBBP (CREB-binding protein)
Y1503C (p.Tyr1503Cys) 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 due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Y1503C (p.Tyr1503Cys) variant details
- p.Tyr1503Cys
- rs587783497
- ClinGen CA271419
- NCI-TCGA Cosmic COSV5211
- NCI-TCGA Cosmic COSV5212
- Pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.91
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Pathogenic (in RSTS1)
- UniProt: Pathogenic (in RSTS1)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)