T1447I (p.Thr1447Ile) variant of CREBBP (CREB-binding protein)
T1447I (p.Thr1447Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
T1447I (p.Thr1447Ile) variant details
- p.Thr1447Ile
- rs2151334254
- ClinGen CA394564418
- cosmic curated COSV52112
- ClinVar RCV001567418
- Pathogenic/Likely pathogenic
- not provided; Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (not provided; Rubinstein-Taybi syndrome)
- EBI: Pathogenic (in RSTS1)
- UniProt: Pathogenic (in RSTS1)
- Structural context available
- Cited in: Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. (PMID 15706485)
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)