N55S (p.Asn55Ser) variant of CREBBP (CREB-binding protein)
N55S (p.Asn55Ser) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Rubinstein-Taybi syndrome; not specified; Rubinstein-Taybi syndrome due to CREBB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N55S (p.Asn55Ser) variant details
- p.Asn55Ser
- rs587783466
- ClinGen CA271365
- ClinVar RCV000145718
- ClinVar RCV002478406
- Conflicting interpretations
- Rubinstein-Taybi syndrome; not specified; Rubinstein-Taybi syndrome due to CREBB
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.23
- CADD 16.00
- PolyPhen-2 0.02
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Rubinstein-Taybi syndrome; not specified; Rubinstein-Taybi syndr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00071)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)