C1723F (p.Cys1723Phe) variant of CREBBP (CREB-binding protein)
C1723F (p.Cys1723Phe) 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 0.91 / 1. The record also includes structural context.
C1723F (p.Cys1723Phe) variant details
- p.Cys1723Phe
- rs794727535
- ClinGen CA394558006
- ClinVar RCV003333820
- Ensembl rs794727535
- Likely pathogenic
- Menke-Hennekam syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.70
- ClinVar: Likely pathogenic (Menke-Hennekam syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available