G57V (p.Gly57Val) variant of CREBBP (CREB-binding protein)
G57V (p.Gly57Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G57V (p.Gly57Val) variant details
- p.Gly57Val
- cosmic curated COSV52133
- TOPMed rs757504250
- gnomAD rs757504250
- Uncertain significance
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.64
- CADD 23.10
- PolyPhen-2 0.35
- SIFT 0.05
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available