S92N (p.Ser92Asn) variant of CREBBP (CREB-binding protein)
S92N (p.Ser92Asn) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S92N (p.Ser92Asn) variant details
- p.Ser92Asn
- rs746902106
- ClinGen CA7870708
- cosmic curated COSV10608
- ClinVar RCV001043763
- Benign
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.27
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Benign (Rubinstein-Taybi syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)