P12T (p.Pro12Thr) variant of CREBBP (CREB-binding protein)
P12T (p.Pro12Thr) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- rs2055490745
- ClinGen CA394567879
- ClinVar RCV002252559
- ClinVar RCV006558691
- Uncertain significance
- Rubinstein-Taybi syndrome; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.19
- CADD 23.60
- PolyPhen-2 0.34
- SIFT 0.03
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome; See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)