S93N (p.Ser93Asn) variant of CREBBP (CREB-binding protein)
S93N (p.Ser93Asn) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S93N (p.Ser93Asn) variant details
- p.Ser93Asn
- rs149092707
- ClinGen CA7870707
- ClinVar RCV002993852
- ESP rs149092707
- Likely benign
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.37
- CADD 24.40
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Likely benign (Rubinstein-Taybi syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)