R1378W (p.Arg1378Trp) variant of CREBBP (CREB-binding protein)
R1378W (p.Arg1378Trp) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar 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 0.70 / 1. The record also includes population frequency data and structural context.
R1378W (p.Arg1378Trp) variant details
- p.Arg1378Trp
- cosmic curated COSV52140
- gnomAD rs1480391685
- Uncertain significance
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome due to CREBBP mutations)
- UniProt: Uncertain significance (in RSTS1)
- Population evidence available
- Structural context available