R75Q (p.Arg75Gln) variant of CREBBP (CREB-binding protein)
R75Q (p.Arg75Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R75Q (p.Arg75Gln) variant details
- p.Arg75Gln
- rs794727273
- ClinGen CA241537
- ClinVar RCV000175774
- ClinVar RCV006555544
- Uncertain significance
- Rubinstein-Taybi syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.52
- CADD 24.40
- PolyPhen-2 0.43
- SIFT 0.03
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome; not provided)
- 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)