T1426R (p.Thr1426Arg) variant of CREBBP (CREB-binding protein)
T1426R (p.Thr1426Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
T1426R (p.Thr1426Arg) variant details
- p.Thr1426Arg
- rs145988918
- ClinGen CA394564684
- ClinVar RCV000856876
- ClinVar RCV006250893
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 0.27
- MetaLR 0.90
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.40
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)