C1710R (p.Cys1710Arg) variant of CREBBP (CREB-binding protein)
C1710R (p.Cys1710Arg) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Menke-Hennekam syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
C1710R (p.Cys1710Arg) variant details
- p.Cys1710Arg
- rs1567265203
- ClinGen CA394558172
- ClinVar RCV000757965
- UniProt VAR 078557
- Pathogenic
- Menke-Hennekam syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Menke-Hennekam syndrome 1)
- EBI: Pathogenic (in MKHK1)
- UniProt: Pathogenic (in MKHK1)
- Structural context available
- Cited in: CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. (PMID 27311832)
- Cited in: Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. (PMID 29460469)