R1378Q (p.Arg1378Gln) variant of CREBBP (CREB-binding protein)
R1378Q (p.Arg1378Gln) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder; Rubinstein-Taybi syndrome due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R1378Q (p.Arg1378Gln) variant details
- p.Arg1378Gln
- rs121434626
- ClinGen CA394565195
- cosmic curated COSV52142
- ClinVar RCV001780057
- Pathogenic
- Neurodevelopmental disorder; Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.70
- CADD 34.00
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Pathogenic (Neurodevelopmental disorder; Rubinstein-Taybi syndrome due to CR)
- EBI: Pathogenic (in RSTS1)
- UniProt: Pathogenic (in RSTS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)