A644P (p.Ala644Pro) variant of CREBBP (CREB-binding protein)
A644P (p.Ala644Pro) 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 Rubinstein-Taybi syndrome due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
A644P (p.Ala644Pro) variant details
- p.Ala644Pro
- rs2141237064
- ClinGen CA394555132
- ClinVar RCV002077368
- Ensembl rs2141237064
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 0.66
- MetaLR 0.89
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.74
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)