L1747R (p.Leu1747Arg) variant of CREBBP (CREB-binding protein)
L1747R (p.Leu1747Arg) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Menke-Hennekam syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
L1747R (p.Leu1747Arg) variant details
- p.Leu1747Arg
- rs2151312325
- UniProt VAR 078558
- Ensembl rs2151312325
- Likely pathogenic
- Menke-Hennekam syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely 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)