S92G (p.Ser92Gly) variant of CREBBP (CREB-binding protein)
S92G (p.Ser92Gly) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S92G (p.Ser92Gly) variant details
- p.Ser92Gly
- rs768640793
- ClinGen CA7870709
- ClinVar RCV003760236
- ExAC rs768640793
- Likely benign
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.24
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.43
- ClinVar: Likely benign (Rubinstein-Taybi syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)