N55K (p.Asn55Lys) variant of CREBBP (CREB-binding protein)
N55K (p.Asn55Lys) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
N55K (p.Asn55Lys) variant details
- p.Asn55Lys
- rs1295122362
- ClinGen CA394562498
- ClinVar RCV003867604
- gnomAD rs1295122362
- Likely benign
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.31
- CADD 23.30
- PolyPhen-2 0.24
- SIFT 0.02
- ClinVar: Likely benign (Rubinstein-Taybi syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)