F1409S (p.Phe1409Ser) variant of CREBBP (CREB-binding protein)
F1409S (p.Phe1409Ser) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
F1409S (p.Phe1409Ser) variant details
- p.Phe1409Ser
- rs587783492
- ClinGen CA271408
- ClinVar RCV000145750
- Ensembl rs587783492
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.95
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)