P1373H (p.Pro1373His) variant of CREBBP (CREB-binding protein)
P1373H (p.Pro1373His) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of Rubinstein-Taybi syndrome due to CREBBP mutations. The record also includes variant effect predictions, published literature, and structural context.
P1373H (p.Pro1373His) variant details
- p.Pro1373His
- rs867556262
- ClinVar RCV000754902
- Ensembl rs867556262
- no classification for the single variant
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- MutPred 0.70
- ClinVar: no classification for the single variant
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)