N47S (p.Asn47Ser) variant of CREBBP (CREB-binding protein)
N47S (p.Asn47Ser) 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; CREBBP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
N47S (p.Asn47Ser) variant details
- p.Asn47Ser
- rs536856848
- ClinGen CA7870730
- cosmic curated COSV99273
- ClinVar RCV003086577
- Conflicting interpretations
- Rubinstein-Taybi syndrome; CREBBP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.72
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (Rubinstein-Taybi syndrome; CREBBP-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)