S80C (p.Ser80Cys) variant of CREBBP (CREB-binding protein)
S80C (p.Ser80Cys) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S80C (p.Ser80Cys) variant details
- p.Ser80Cys
- rs1318683084
- ClinGen CA394561953
- ClinVar RCV001336682
- gnomAD rs1318683084
- Uncertain significance
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.52
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)