R1786G (p.Arg1786Gly) variant of CREBBP (CREB-binding protein)
R1786G (p.Arg1786Gly) 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 0.74 / 1. The record also includes structural context.
R1786G (p.Arg1786Gly) variant details
- p.Arg1786Gly
- rs1555471394
- ClinGen CA394557063
- ClinVar RCV002285198
- gnomAD rs1555471394
- Likely pathogenic
- Menke-Hennekam syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.76
- ClinVar: Likely pathogenic (Menke-Hennekam syndrome 1)
- EBI: Pathogenic (in MKHK1)
- UniProt: Pathogenic (in MKHK1)
- Structural context available