H1470P (p.His1470Pro) variant of CREBBP (CREB-binding protein)
H1470P (p.His1470Pro) 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.
H1470P (p.His1470Pro) variant details
- p.His1470Pro
- rs797044860
- ClinGen CA394564026
- ClinVar RCV002948658
- Ensembl rs797044860
- Pathogenic
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Rubinstein-Taybi syndrome)
- EBI: Pathogenic (in RSTS1)
- UniProt: Pathogenic (in RSTS1)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)