A91T (p.Ala91Thr) variant of CREBBP (CREB-binding protein)
A91T (p.Ala91Thr) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A91T (p.Ala91Thr) variant details
- p.Ala91Thr
- rs200673670
- ClinGen CA158182
- ClinVar RCV000120599
- ClinVar RCV003593913
- Likely benign
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.28
- SIFT 0.03
- ClinVar: Likely benign (Rubinstein-Taybi syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)