R601W (p.Arg601Trp) variant of CREBBP (CREB-binding protein)
R601W (p.Arg601Trp) 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 0.92 / 1. The record also includes published literature and structural context.
R601W (p.Arg601Trp) variant details
- p.Arg601Trp
- rs1354934373
- ClinGen CA394556374
- NCI-TCGA Cosmic COSV5212
- cosmic curated COSV52120
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- 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)