G1746V (p.Gly1746Val) variant of CREBBP (CREB-binding protein)
G1746V (p.Gly1746Val) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G1746V (p.Gly1746Val) variant details
- p.Gly1746Val
- rs869312714
- ClinGen CA357158
- ClinVar RCV000209852
- gnomAD rs869312714
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.85
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)