C1720R (p.Cys1720Arg) variant of CREBBP (CREB-binding protein)
C1720R (p.Cys1720Arg) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Rubinstein-Taybi syndrome due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
C1720R (p.Cys1720Arg) variant details
- p.Cys1720Arg
- rs2051906390
- ClinGen CA394558036
- ClinVar RCV001253321
- ClinVar RCV003223712
- Pathogenic/Likely pathogenic
- not provided; Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic/Likely pathogenic (not provided; Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)