Y1482D (p.Tyr1482Asp) variant of CREBBP (CREB-binding protein)
Y1482D (p.Tyr1482Asp) 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 0.92 / 1. The record also includes published literature and structural context.
Y1482D (p.Tyr1482Asp) variant details
- p.Tyr1482Asp
- rs587783495
- ClinGen CA271415
- cosmic curated COSV52125
- ClinVar RCV000145755
- Pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)