Q106H (p.Gln106His) variant of CREBBP (CREB-binding protein)
Q106H (p.Gln106His) 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; Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q106H (p.Gln106His) variant details
- p.Gln106His
- rs764200811
- ClinGen CA276987414
- ClinVar RCV002909171
- ClinVar RCV005019455
- Uncertain significance
- Rubinstein-Taybi syndrome; Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.53
- CADD 20.20
- PolyPhen-2 0.90
- SIFT 0.11
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome; Menke-Hennekam syndrome 1; Rubinstein)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)