R1664H (p.Arg1664His) variant of CREBBP (CREB-binding protein)
R1664H (p.Arg1664His) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R1664H (p.Arg1664His) variant details
- p.Arg1664His
- rs1596791996
- ClinGen CA394558748
- cosmic curated COSV52122
- ClinVar RCV000856923
- Uncertain significance
- Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Uncertain significance (CREBBP-related disorder)
- EBI: Pathogenic (in RSTS1)
- UniProt: Pathogenic (in RSTS1)
- Structural context available
- Cited in: Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (PMID 12566391)
- Cited in: Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. (PMID 15706485)