S1382F (p.Ser1382Phe) variant of CREBBP (CREB-binding protein)
S1382F (p.Ser1382Phe) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S1382F (p.Ser1382Phe) variant details
- p.Ser1382Phe
- rs149877180
- ClinGen CA276982550
- ClinVar RCV000856872
- ESP rs149877180
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.72
- CADD 30.00
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)