M1872T (p.Met1872Thr) variant of CREBBP (CREB-binding protein)
M1872T (p.Met1872Thr) 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 Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
M1872T (p.Met1872Thr) variant details
- p.Met1872Thr
- rs879255381
- ClinGen CA10586027
- ClinVar RCV000238672
- ClinVar RCV002290966
- Pathogenic/Likely pathogenic
- Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- AlphaMissense 0.95
- MetaLR 0.74
- MetaSVM 0.62
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome; not provid)
- EBI: Pathogenic (in MKHK1)
- UniProt: Pathogenic (in MKHK1)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)