A1782T (p.Ala1782Thr) variant of CREBBP (CREB-binding protein)
A1782T (p.Ala1782Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
A1782T (p.Ala1782Thr) variant details
- p.Ala1782Thr
- rs1567263529
- ClinGen CA394557094
- NCI-TCGA Cosmic COSV5214
- cosmic curated COSV52140
- Likely pathogenic
- Menke-Hennekam syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Menke-Hennekam syndrome 1; not provided)
- EBI: Likely pathogenic (in MKHK1)
- UniProt: Likely pathogenic (in MKHK1)
- Structural context available